Kathryn Dahir, Ruban Dhaliwal, Jill Simmons, Erik A Imel, Gary S Gottesman, John D Mahan, Gnanagurudasan Prakasam, Allison I Hoch, Prameela Ramesan, Maria DÃaz-González de Ferris
doi : 10.1210/clinem/dgab796
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 599–613
X-linked hypophosphatemia (XLH) is an inherited skeletal disorder that can lead to lifelong deleterious musculoskeletal and functional consequences. Although often perceived as a childhood condition, children and adults both experience the negative effects of XLH. Adolescents and young adults (AYAs) benefit from effective health care transition (HCT) preparation to support the transfer from pediatric- to adult-focused care. Whereas transition timelines, milestones, and educational tools exist for some chronic conditions, they do not meet the unique needs of patients with XLH.
Maria Gabriela Figueiredo, Thiago Gagliano-Jucá, Shehzad Basaria
doi : 10.1210/clinem/dgab772
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 614–626
Injections with intramuscular (IM) testosterone esters have been available for almost 8 decades and not only result in predictable serum testosterone levels but are also the most inexpensive modality. However, they are difficult to self-administer and associated with some discomfort. Recently, subcutaneous (SC) administration of testosterone esters has gained popularity, as self-administration is easier with this route. Available data, though limited, support the feasibility of this route. Here we review the pharmacokinetics and safety of SC testosterone therapy with both long- and ultralong-acting testosterone esters. In addition, we provide guidance for clinicians on how to counsel and manage their patients who opt for the SC route.
Jinbo Hu, Yang Hu, Ellen Hertzmark, Chen Yuan, Gang Liu, Meir J Stampfer, Eric B Rimm, Frank B Hu, Molin Wang, Qi Sun
doi : 10.1210/clinem/dgab800
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 627–637
The association between weight change and mortality among participants with incident type 2 diabetes (T2D) was unclear.
Alexa Marr, Nicole Yokubynas, Ken Tang, David Saleh, Diane K Wherrett, Robert Stein, Ereny Bassilious, Pranesh Chakraborty, Sarah E Lawrence
doi : 10.1210/clinem/dgab798
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 638–648
The apparent increased incidence of congenital hypothyroidism (CH) is partly due to increased detection of transient disease.
Tristan Equey, Antoni Pastor, Rafael de la Torre Fornell, Andreas Thomas, Sylvain Giraud, Mario Thevis, Tiia Kuuranne, Norbert Baume, Osquel Barroso, Reid Aikin
doi : 10.1210/clinem/dgab799
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 649–659
Because of its anabolic and lipolytic properties, growth hormone (GH) use is prohibited in sport. Two methods based on population-derived decision limits are currently used to detect human GH (hGH) abuse: the hGH Biomarkers Test and the Isoforms Differential Immunoassay.
Xin He, Margaret Banker, Muraly Puttabyatappa, Vasantha Padmanabhan, Richard J Auchus
doi : 10.1210/clinem/dgab793
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 660–667
Adrenal-derived 11-oxygenated androgens (11oAs) are known important contributors to human physiology and disease but have not been studied in pregnancy.
Prapaporn Jungtrakoon Thamtarana, Antonella Marucci, Luca Pannone, Amélie Bonnefond, Serena Pezzilli, Tommaso Biagini, Patinut Buranasupkajorn, Timothy Hastings, Christine Mendonca, Lorella Marselli, Rosa Di Paola, Zuroida Abubakar, Luana Mercuri, Federica Alberico, Elisabetta Flex, Julian Ceròn, Montserrat Porta-de-la-Riva, Ornella Ludovico, Massimo Carella, Simone Martinelli, Piero Marchetti, Tommaso Mazza, Philippe Froguel, Vincenzo Trischitta, Alessandro Doria, Sabrina Prudente
doi : 10.1210/clinem/dgab790
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 668–684
Genes causing familial forms of diabetes mellitus are only partially known.
Bushra Gorsi, Edgar Hernandez, Marvin Barry Moore, Mika Moriwaki, Clement Y Chow, Emily Coelho, Elaine Taylor, Claire Lu, Amanda Walker, Philippe Touraine,Lawrence M Nelson, Amber R Cooper, Elaine R Mardis, Aleksander Rajkovic, Mark Yandell, Corrine K Welt
doi : 10.1210/clinem/dgab775
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 685–714
A genetic etiology likely accounts for the majority of unexplained primary ovarian insufficiency (POI).
Francisco J Osuna-Prieto, José Rubio-Lopez, Xinyu Di, Wei Yang, Isabelle Kohler, Patrick C N Rensen, Jonatan R Ruiz, Borja Martinez-Tellez
doi : 10.1210/clinem/dgab773
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 715–723
Bile acids (BA) are known for their role in intestinal lipid absorption and can also play a role as signaling molecules to control energy metabolism. Prior evidence suggests that alterations in circulating BA levels and in the pool of circulating BA are linked to an increased risk of obesity and a higher incidence of type 2 diabetes in middle-aged adults.
Dong Hou, Chencheng Yao, Bingying Xu, Wei Luo, Hanni Ke, Zheng Li, Yingying Qin, Ting Guo
doi : 10.1210/clinem/dgab777
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 724–734
Premature ovarian insufficiency (POI) and nonobstructive azoospermia (NOA) are the most severe diseases causing irreversible infertility in females and males, respectively. The contribution of synaptonemal complex (SC) gene variations in the pathogenesis of sporadic patients with POI and NOA has not been systematically illustrated.
Neftali Eduardo Antonio-Villa, Luisa Fernández-Chirino, Arsenio Vargas-Vázquez, Carlos A FermÃn-MartÃnez, Carlos A Aguilar-Salinas, Omar Yaxmehen Bello-Chavolla
doi : 10.1210/clinem/dgab762
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 735–742
Data-driven diabetes subgroups were proposed as an alternative to address diabetes heterogeneity. However, changes in trends for these subgroups have not been reported.
Tim D Cheetham, Michael Cole, Mario Abinun, Amit Allahabadia, Tim Barratt, Justin H Davies, Paul Dimitri, Amanda Drake, Zainaba Mohamed, Robert D Murray, Caroline A Steele, Nicola Zammitt, Sonya Carnell, Jonathan Prichard, Gillian Watson, Sophie Hambleton, John N S Matthews, Simon H S Pearce
doi : 10.1210/clinem/dgab763
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 743–754
Remission rates in young people with Graves hyperthyroidism are less than 25% after 2 years of thionamide antithyroid drug (ATD).
Pavel Hruska, Jan Kucera, Matej Pekar, Pavol Holéczy, Miloslav Mazur, Marek Buzga, Daniela Kuruczova, Peter Lenart, Jana Fialova Kucerova, David Potesil, Zbynek Zdrahal, Julie Bienertova-Vasku
doi : 10.1210/clinem/dgab756
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 755–775
Adipose tissue distribution is a key factor influencing metabolic health and risk in obesity-associated comorbidities.
Marcia S Brose, Yury Panaseykin, Bhavana Konda, Christelle de la Fouchardiere, Brett G M Hughes, Andrew G Gianoukakis, Young Joo Park, Ilia Romanov, Monika K Krzyzanowska, Sophie Leboulleux, Terri A Binder, Corina Dutcus, Ran Xie, Matthew H Taylor
doi : 10.1210/clinem/dgab731
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 776–787
Lenvatinib is a multikinase inhibitor approved to treat radioiodine-refractory differentiated thyroid cancer (RR-DTC) at a starting dose of 24 mg/day. This study explored, in a double-blinded fashion, whether a starting dose of 18 mg/day would provide comparable efficacy with reduced toxicity.
Tae Hoon Kim, Steven L Young, Tsutomu Sasaki, Jeffrey L Deaton, David P Schammel, Wilder Alberto Palomino, Jae-Wook Jeong, Bruce A Lessey
doi : 10.1210/clinem/dgab753
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 788–800
Progesterone resistance, a known pathologic condition associated with a reduced cellular response to progesterone and heightened estrogen responses, appears to have a normal physiologic role in mammalian reproduction. The molecular mechanism responsible for progesterone resistance in normal and abnormal endometrium remains unclear.
Richard J Auchus, Kyriakie Sarafoglou, Patricia Y Fechner, Maria G Vogiatzi, Erik A Imel, Shanlee M Davis, Nagdeep Giri, Julia Sturgeon, Eiry Roberts, Jean L Chan, Robert H Farber
doi : 10.1210/clinem/dgab749
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 801–812,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is characterized by impaired cortisol synthesis and excess androgen production. Corticotropin-releasing factor type 1 receptor (CRF1R) antagonism may decrease adrenal androgen production.
Agnès Linglart, Erik A Imel, Michael P Whyte, Anthony A Portale, Wolfgang Högler, Annemieke M Boot, Raja Padidela, William van’t Hoff, Gary S Gottesman, Angel Chen, Alison Skrinar, Mary Scott Roberts, Thomas O Carpenter
doi : 10.1210/clinem/dgab729
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 813–824
In X-linked hypophosphatemia (XLH), excess fibroblast growth factor-23 causes hypophosphatemia and low calcitriol, leading to musculoskeletal disease with clinical consequences. XLH treatment options include conventional oral phosphate with active vitamin D, or monotherapy with burosumab, a monoclonal antibody approved to treat children and adults with XLH. We have previously reported outcomes up to 64 weeks, and here we report safety and efficacy follow-up results up to 160 weeks from an open-label, multicenter, randomized, dose-finding trial of burosumab for 5- to 12-year-old children with XLH.
Cynthia A Stuenkel, Anne Gompel, Susan R Davis, JoAnn V Pinkerton, Mary Ann Lumsden, Richard J Santen
doi : 10.1210/clinem/dgab766
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 825–835
Menstrual cyclicity is a marker of health for reproductively mature women. Absent menses, or amenorrhea, is often the initial sign of pregnancy—an indication that the system is functioning appropriately and capable of generating the intended evolutionary outcome. Perturbations of menstrual regularity in the absence of pregnancy provide a marker for physiological or pathological disruption of this well-orchestrated process. New-onset amenorrhea with duration of 3 to 6 months should be promptly evaluated. Secondary amenorrhea can reflect structural or functional disturbances occurring from higher centers in the hypothalamus to the pituitary, the ovary, and finally, the uterus. Amenorrhea can also be a manifestation of systemic disorders resulting in compensatory inhibition of reproduction. Identifying the point of the breakdown is essential to restoring reproductive homeostasis to maintain future fertility and reestablish reproductive hormonal integrity. Among the most challenging disorders contributing to secondary amenorrhea is primary ovarian insufficiency (POI). This diagnosis stems from a number of possible etiologies, including autoimmune, genetic, metabolic, toxic, iatrogenic, and idiopathic, each with associated conditions and attendant medical concerns. The dual assaults of unanticipated compromised fertility concurrently with depletion of the normal reproductive hormonal milieu yield multiple management challenges. Fertility restoration is an area of active research, while optimal management of estrogen deficiency symptoms and the anticipated preventive benefits of hormone replacement for bone, cardiovascular, and neurocognitive health remain understudied. The state of the evidence for an optimal, individualized, clinical management approach to women with POI is discussed along with priorities for additional research in this population.
Juliane Léger, Clemence Delcour, Jean-Claude Carel
doi : 10.1210/clinem/dgab747
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 836–846
Fetal and neonatal dysfunctions include rare serious disorders involving abnormal thyroid function during the second half of gestation, which may persist throughout life, as for most congenital thyroid disorders, or be transient, resolving in the first few weeks of life, as in autoimmune hyperthyroidism or hypothyroidism and some cases of congenital hypothyroidism (CH) with the thyroid gland in situ. Primary CH is diagnosed by neonatal screening, which has been implemented for 40 years in developed countries and should be introduced worldwide, as early treatment prevents irreversible neurodevelopmental delay. Central CH is a rarer entity occurring mostly in association with multiple pituitary hormone deficiencies. Other rare disorders impair the action of thyroid hormones. Neonatal Graves’ disease (GD) results from the passage of thyrotropin receptor antibodies (TRAbs) across the placenta, from mother to fetus. It may affect the fetuses and neonates of mothers with a history of current or past GD, but hyperthyroidism develops only in those with high levels of stimulatory TRAb activity. The presence of antibodies predominantly blocking thyroid-stimulating hormone receptors may result in transient hypothyroidism, possibly followed by neonatal hyperthyroidism, depending on the balance between the antibodies present. Antithyroid drugs taken by the mother cross the placenta, treating potential fetal hyperthyroidism, but they may also cause transient fetal and neonatal hypothyroidism. Early diagnosis and treatment are key to optimizing the child’s prognosis. This review focuses on the diagnosis and management of these patients during the fetal and neonatal periods. It includes the description of a case of fetal and neonatal autoimmune hyperthyroidism.
Vaneeta Bamba, Roopa Kanakatti Shankar
doi : 10.1210/clinem/dgab746
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 847–861
The use of recombinant human growth hormone (rhGH) in children and adolescents has expanded since its initial approval to treat patients with severe GH deficiency (GHD) in 1985. rhGH is now approved to treat several conditions associated with poor growth and short stature. Recent studies have raised concerns that treatment during childhood may affect morbidity and mortality in adulthood, with specific controversies over cancer risk and cerebrovascular events. We will review 3 common referrals to a pediatric endocrinology clinic, followed by a summary of short- and long-term effects of rhGH beyond height outcomes. Methods to mitigate risk will be reviewed. Finally, this information will be applied to each clinical case, highlighting differences in counseling and clinical outcomes. rhGH therapy has been used for more than 3 decades. Data are largely reassuring, yet we still have much to learn about pharmaceutical approaches to growth in children and the lifelong effect of treatment.
Angelo Sabag, Loren Barr, Mike Armour, Alex Armstrong, Callum J Baker, Stephen M Twigg, Dennis Chang, Daniel A Hackett, Shelley E Keating, Jacob George, Nathan A Johnson
doi : 10.1210/clinem/dgab795
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 862–881
Non-alcoholic fatty liver disease, characterized by excess fat accumulation in the liver, is considered the hepatic manifestation of metabolic syndrome. Recent findings have shown that high-intensity interval training (HIIT) can reduce liver fat but it is unclear whether this form of exercise is superior to traditional moderate-intensity continuous training (MICT).
Marlene Chakhtoura, Dania S Bacha, Charbel Gharios, Sara Ajjour, Mariam Assaad, Yara Jabbour, Francesca Kahale, Aya Bassatne, Stephanie Antoun, Elie A Akl, Roger Bouillon, Paul Lips, Peter R Ebeling, Ghada El-Hajj Fuleihan
doi : 10.1210/clinem/dgab742
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages 882–898
The growing number of systematic reviews/meta-analyses (SR/MAs) on vitamin D (± calcium) for fracture prevention has led to contradictory guidelines.
Tiantian Zhu, Mark O Goodarzi
doi : 10.1210/clinem/dgab757
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e899–e911
Although polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of reproductive age, risk factors that may cause the syndrome are poorly understood. Based on epidemiologic studies, PCOS is thought to cause several adverse outcomes such as cardiovascular disease; however, the common presence of comorbidities such as obesity may be responsible for such associations, rather than PCOS in and of itself. To overcome the limitations of observational studies, investigators have employed Mendelian randomization (MR), which uses genetic variants to interrogate causality between exposures and outcomes.
Soren Harnois-Leblanc, Maria Isabel Hernandez, Ethel Codner, Fernando Cassorla, Sharon E Oberfield, Natasha I Leibel, Revi P Mathew, Svetlana Ten, Denis A Magoffin, Christianne J Lane, Michael I Goran, Ricardo Azziz, Jean-Patrice Baillargeon, David H Geller
doi : 10.1210/clinem/dgab812
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e912–e923
First-degree relatives of women with polycystic ovary syndrome (PCOS) present hormonal and metabolic alterations compared to girls unrelated to PCOS. It is unknown whether glucose intolerance in the PCOS proband confers a more severe metabolic predisposition on their first-degree relatives.
Dong D Wang, Qibin Qi, Zheng Wang, Mykhaylo Usyk, Daniela Sotres-Alvarez, Josiemer Mattei, Martha Tamez, Marc D Gellman, Martha Daviglus, Frank B Hu, Meir J Stampfer, Curtis Huttenhower, Rob Knight, Robert D Burk, Robert C Kaplan
doi : 10.1210/clinem/dgab815
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e924–e934
The interrelationships among the gut microbiome, the Mediterranean diet (MedDiet), and a clinical endpoint of diabetes is unknown.
Petra M Pöllänen, Taina Härkönen, Jorma Ilonen, Jorma Toppari, Riitta Veijola, Heli Siljander, Mikael Knip
doi : 10.1210/clinem/dgab816
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e935–e946
To evaluate the role of autoantibodies to N-terminally truncated glutamic acid decarboxylase GAD65(96-585) (t-GADA) as a marker for type 1 diabetes (T1D) and to assess the potential human leukocyte antigen (HLA) associations with such autoantibodies.
Yamato Keidai, Yorihiro Iwasaki, Kanako Iwasaki, Sachiko Honjo, Murat Bastepe, Akihiro Hamasaki
doi : 10.1210/clinem/dgab801
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e947–e954
Sporadic pseudohypoparathyroidism type 1B (sporPHP1B) is an imprinting disease without a defined genetic cause, characterized by broad methylation changes in differentially methylated regions (DMRs) of the GNAS gene.
Justin B Echouffo-Tcheugui, Arnaud D Kaze, Gregg C Fonarow, Sam Dagogo-Jack
doi : 10.1210/clinem/dgab794
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e955–e962
The association of severe hypoglycemia on the incidence of heart failure (HF) is unclear.
Arthur Eumann Mesas, Miriam Garrido-Miguel, Rubén Fernández-RodrÃguez, SofÃa Fernández Franco, Cristina Lugones-Sánchez, Luis GarcÃa-Ortiz, Vicente MartÃnez-VizcaÃno
doi : 10.1210/clinem/dgab802
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e963–e972
Egg consumption is one of the main dietary sources of cholesterol, but whether individuals who eat more eggs have a worse blood lipid profile remains controversial.
Joana R N Lemos, David A Baidal, Raffaella Poggioli, Virginia Fuenmayor, Carmen Chavez, Ana Alvarez, Elina Linetsky, Franck Mauvais-Jarvis, Camillo Ricordi, Rodolfo Alejandro
doi : 10.1210/clinem/dgab787
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e973–e979
Islet transplantation (ITx) has proved to be effective in preventing severe hypoglycemia and improving metabolic control in selected subjects with type 1 diabetes. Long-term graft function remains a challenge. Estrogens have been shown to protect β cells from metabolic stresses and improve revascularization of transplanted human islets in the mouse. We aimed to evaluate the influence of sex in allograft survival of ITx recipients.
Niklas Rye Jørgensen, Sarah Seberg Diemar, Gitte Lund Christensen, Nina Kimer, Karen Vagner Danielsen, Søren Møller
doi : 10.1210/clinem/dgab788
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e980–e995
Severe osteodystrophy is common in patients with liver dysfunction. Markers of bone metabolism may help in early diagnosis of osteodystrophy and in understanding underlying pathophysiological mechanisms.
Dan Yedu Quansah, Justine Gross, Leah Gilbert, Amelie Pauchet, Antje Horsch, Katrien Benhalima, Emmanuel Cosson, Jardena J Puder
doi : 10.1210/clinem/dgab791
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e996–e1008
Early diagnosis and treatment of gestational diabetes (GDM) may reduce adverse obstetric and neonatal outcomes, especially in high-risk women. However, there is a lack of data for other outcomes.
Andrea Laurenzi, Amelia Caretto, Chiara Molinari, Alessia Mercalli, Raffaella Melzi, Rita Nano, Cristina Tresoldi, Patrizia Rovere Querini, Fabio Ciceri, Vito Lampasona,Emanuele Bosi, Marina Scavini, Lorenzo Piemonti
doi : 10.1210/clinem/dgab792
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1009–e1019
To assess whether dysglycemia diagnosed during severe acute respiratory syndrome coronavirus 2 pneumonia may become a potential public health problem after resolution of the infection. In an adult cohort with suspected coronavirus disease 2019 (COVID-19) pneumonia, we integrated glucose data upon hospital admission with fasting blood glucose (FBG) in the year prior to COVID-19 and during postdischarge follow-up.
Stefano Zucchini, Natascia Di Iorgi, Gabriella Pozzobon, Stefania Pedicelli, Maria Parpagnoli, Daniela Driul, Patrizia Matarazzo, Federico Baronio, Marco Crocco, Giovanna Iudica, Cristina Partenope, Beatrice Nardini, Graziamaria Ubertini, Rachele Menardi, Chiara Guzzetti, Lorenzo Iughetti, Tommaso Aversa, Raffaella Di Mase, Alessandra Cassio, Physiopathology of Growth Processes and Puberty Study Group of the Italian Society for Pediatric Endocrinology and Diabetology
doi : 10.1210/clinem/dgab784
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1020–e1031
Nationwide data on children diagnosed with craniopharyngioma (CP) are not available in Italy.
Marinna C Okawa, Elaine Cochran, Marissa Lightbourne, Rebecca J Brown
doi : 10.1210/clinem/dgab782
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1032–e1046
Rabson-Mendenhall syndrome (RMS) is caused by biallelic pathogenic variants in the insulin receptor gene (INSR) leading to insulin-resistant diabetes, microvascular complications, and growth hormone resistance with short stature. Small, uncontrolled studies suggest that 1-year treatment with recombinant leptin (metreleptin) improves glycemia in RMS.
Eun Roh, Eunjin Noh, Soon Young Hwang, Jung A Kim, Eyun Song, Minjeong Park, Kyung Mook Choi, Sei Hyun Baik, Geum Joon Cho, Hye Jin Yoo
doi : 10.1210/clinem/dgab776
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1047–e1056
Abnormal thyroid function after thyroidectomy and subsequent thyroid-stimulating hormone suppression can have detrimental effects on glucose homeostasis in patients with thyroid cancer.
Seul Ki Lee, Chan Yoon Park, Jimin Kim, Donguk Kim, Han Choe, Jong-Hyeok Kim, Joon Pio Hong, Yeon Ji Lee, Yoonseok Heo, Hye Soon Park, Yeon Jin Jang
doi : 10.1210/clinem/dgab780
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1057–e1073
The upregulation of TRIB3 (Tribbles homolog 3), a stress-inducible gene encoding a pseudokinase, has been implicated in the development of insulin resistance in the skeletal muscle and liver of patients with obesity and type 2 diabetes. However, there is little information regarding TRIB3 expression in human adipose tissue.
Darlène Antoine, Rosa-Maria Guéant-Rodriguez, Jean-Claude Chèvre, Sébastien Hergalant, Tanmay Sharma, Zhen Li, Pierre Rouyer, Céline Chery, Sarah Halvick, Catherine Bui, Abderrahim Oussalah, Olivier Ziegler, Didier Quilliot, Laurent Brunaud, Jean-Louis Guéant, David Meyre
doi : 10.1210/clinem/dgab774
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1074–e1084
A recent study identified 14 low-frequency coding variants associated with body mass index (BMI) in 718 734 individuals predominantly of European ancestry.
Stephanie Griggs, Margaret Grey, Kingman P Strohl, Sybil L Crawford, Seunghee Margevicius, Sangeeta R Kashyap, Chiang-Shan R Li, Sanjay Rajagopalan, Ronald L Hickman, Jr
doi : 10.1210/clinem/dgab771
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1085–e1095
Short sleep duration and sleep disruptions are associated with impaired glucoregulation in type 1 diabetes (T1D). However, the mechanistic pathways between sleep and glucose variability remain unclear.
Archana Radhakrishnan, David Reyes-Gastelum, Paul Abrahamse, Brittany Gay, Sarah T Hawley, Lauren P Wallner, Debbie W Chen, Ann S Hamilton, Kevin C Ward, Megan R Haymart
doi : 10.1210/clinem/dgab781
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1096–e1105
Little is known about provider specialties involved in thyroid cancer diagnosis and management.
Ariane Delai, Patricia M Gomes, Maria Cristina Foss-Freitas, Jorge Elias, Jr, Sonir R Antonini, Margaret Castro, Ayrton C Moreira, Livia M Mermejo
doi : 10.1210/clinem/dgab767
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1106–e1116
Insulin sensitivity evaluation by hyperinsulinemic-euglycemic clamp in nonclassical congenital adrenal hyperplasia (NC-CAH) due to 21-hydroxilase deficiency.
Madleen Lemaitre, Camille Ternynck, Julien Bourry, Florence Baudoux, Damien Subtil, Anne Vambergue
doi : 10.1210/clinem/dgab769
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1117–e1125
Despite optimization of metabolic balance during pregnancy in type 1 diabetes (T1D), maternal–fetal complications remain higher than in the background population.
Francesca Macaluso, Kathleen M Weber, Leah H Rubin, Elaine Dellinger, Susan Holman, Howard Minkoff, Sheila Keating, Lisa R Merlin, Deborah R Gustafson
doi : 10.1210/clinem/dgab759
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1126–e1135
It is not yet understood whether people living with HIV infection have an increased risk of Alzheimers Disease and Related Dementias due to enhanced survivorship with highly effective antiretroviral therapies and/or increasing adiposity with aging.
Ferdy S van Geest, Stefan Groeneweg, Erica L T van den Akker, Iuliu Bacos, Diana Barca, Sjoerd A A van den Berg, Enrico Bertini, Doris Brunner, Nicola Brunetti-Pierri, Marco Cappa, Gerarda Cappuccio, Krishna Chatterjee, Alexander D Chesover, Peter Christian, Régis Coutant, Dana Craiu, Patricia Crock, Cheyenne Dewey, Alice Dica, Paul Dimitri, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi R Garibaldi, Belinda George, Annette Hackenberg, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Amy Lawson-Yuen, Michaela Linder-Lucht, Greta Lyons, Felipe Monti Lora, Carla Moran, Katalin E Müller, Laura Paone, Praveen G Paul, Michel Polak, Francesco Porta, Christina Reinauer, Yolanda B de Rijke, Rowen Seckold, Tuba Seven Menevşe, Peter Simm, Anna Simon, Marco Spada, Athanasia Stoupa, Lilla Szeifert, Davide Tonduti, Hans van Toor, Serap Turan, Joel Vanderniet, Monique de Waart, Ronald van der Wal, Adri van der Walt, Anne-Marie van Wermeskerken, Jolanta Wierzba, Federica Zibordi, Amnon Zung, Robin P Peeters, W Edward Visser
doi : 10.1210/clinem/dgab750
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1136–e1147
Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with being underweight and having cardiovascular dysfunction.
Cristina Garcia-Beltran, Rubén Cereijo, Cristina Plou, Aleix Gavaldà -Navarro, Rita Malpique, Joan Villarroya, Abel López-Bermejo, Francis de Zegher, Lourdes Ibáñez, Francesc Villarroya
doi : 10.1210/clinem/dgab761
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1148–e1158
Brown adipose tissue (BAT) is particularly abundant in neonates, but its association with measures of adiposity and metabolic health in early infancy is poorly delineated. Besides sustaining nonshivering thermogenesis, BAT secretes brown adipokines that act on systemic metabolism. The chemokine CXCL14 has been identified as a brown adipokine in experimental studies.
Zhongyu Jian, Yu Huang, Yazhou He, Xi Jin, Hong Li, Sheyu Li, Kunjie Wang
doi : 10.1210/clinem/dgab758
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1159–e1166
To assess whether lifelong higher circulating 25-hydroxyvitamin D [25(OH)D] levels increase serum calcium levels and kidney stone disease (KSD) risk.
Chi-Chao Chao, Ming-Tsung Tseng, Paul-Chen Hsieh, Chien-Ho (Janice) Lin, Shin-Leh Huang, Sung-Tsang Hsieh, Ming-Chang Chiang
doi : 10.1210/clinem/dgab754
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1167–e1180
About one-third of diabetic patients suffer from neuropathic pain, which is poorly responsive to analgesic therapy and associated with greater autonomic dysfunction. Previous research on diabetic neuropathy mainly links pain and autonomic dysfunction to peripheral nerve degeneration resulting from systemic metabolic disturbances, but maladaptive plasticity in the central pain and autonomic systems following peripheral nerve injury has been relatively ignored.
Kristina Berke, Georgiana Constantinescu, Jimmy Masjkur, Otilia Kimpel, Ulrich Dischinger, Mirko Peitzsch, Aleksandra Kwapiszewska, Piotr Dobrowolski, Svenja Nölting, Martin Reincke, Felix Beuschlein, Stefan R Bornstein, Aleksander Prejbisz, Jacques W M Lenders, Martin Fassnacht, Graeme Eisenhofer
doi : 10.1210/clinem/dgab751
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1181–e1192
Most patients with adrenal incidentaloma have nonfunctional lesions that do not require treatment, while others have functional or malignant tumors that require intervention. The plasma steroid metabolome may be useful to assess therapeutic need.
Johan Onslev, Martin Thomassen, Jørgen Wojtaszewski, Jens Bangsbo, Morten Hostrup
doi : 10.1210/clinem/dgab752
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1193–e1203
Exercise blunts the effect of beta2-agonists on peripheral glucose uptake and energy expenditure. Whether such attenuation extends into recovery is unknown.
Ayesha Fawad, Andreas Bergmann, Janin Schulte, Zahra A Butt, Peter M Nilsson, Louise Bennet, Marju Orho-Melander, Olle Melander
doi : 10.1210/clinem/dgab755
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1204–e1211
Neurotensin is associated with cardiometabolic diseases but its role with mortality risk in humans is unknown.
Marian Dejaeger, Leen Antonio, Roger Bouillon, Hannes Moors, Frederick C W Wu, Terence W O’Neill, Ilpo T Huhtaniemi, Giulia Rastrelli, Gianni Forti, Mario Maggi, Felipe F Casanueva, Jolanta Slowikowska-Hilczer, Margus Punab, Evelien Gielen, Jos Tournoy, Dirk Vanderschueren
doi : 10.1210/clinem/dgab743
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1212–e1220
Low total 25-hydroxyvitamin D (25(OH)D) has been associated with mortality. Whether vitamin D in its free form or 1,25-dihydroxyvitamin D (1,25(OH)2D), provide any additional information is unclear.
Natalia Genere, Ravinder Jeet Kaur, Shobana Athimulam, Melinda A Thomas, Todd Nippoldt, Molly Van Norman, Ravinder Singh, Stefan Grebe, Irina Bancos
doi : 10.1210/clinem/dgab724
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1221–e1230
Interpretation of dexamethasone suppression test (DST) may be influenced by dexamethasone absorption and metabolism and by the altered cortisol binding.
Ashley J Han, Elena V Varlamov, Maria Fleseriu
doi : 10.1210/clinem/dgab748
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1231–e1241
Characterization of the clinical features and natural history of nonfunctioning pituitary microadenomas (NFPmAs) is limited by heterogeneous and small-scale studies.
Nikita R Chander, Swathikan Chidambaram, Klaas Van Den Heede, Aimee N DiMarco, Neil S Tolley, F Fausto Palazzo
doi : 10.1210/clinem/dgab740
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1242–e1248
Preoperative localization studies are standard practice in patients undergoing parathyroidectomy for primary hyperparathyroidism (pHPT). The most common modalities are neck ultrasound (US) and sestamibi scanning. However, the nature of pHPT is changing, with imaging increasingly yielding negative results. Numerous studies suggest unlocalized disease is associated with poor outcomes, calling into question whether such patients are best treated conservatively.
Muhammad Kassim Javaid, Leanne Ward, Rafael Pinedo-Villanueva, Angela J Rylands, Angela Williams, Karl Insogna, Erik A Imel
doi : 10.1210/clinem/dgab739
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1249–e1262
Patients with X-linked hypophosphatemia (XLH) experience multiple musculoskeletal manifestations throughout adulthood.
Najla Albader, Minjing Zou, Huda A BinEssa, Saba Abdi, Anwar F Al-Enezi, Brian F Meyer, Ali S Alzahrani, Yufei Shi
doi : 10.1210/clinem/dgab737
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1263–e1276
Congenital hypothyroidism (CH) is caused by mutations in the genes for thyroid hormone synthesis. In our previous investigation of CH patients, approximately 53% of patients had mutations in either coding exons or canonical splice sites of causative genes. Noncanonical splice-site variants in the intron were detected but their pathogenic significance was not known.
Ives Yubin Lim, Xinyi Lin, Ai Ling Teh, Yonghui Wu, Li Chen, Menglan He, Shiao-Yng Chan, Julia L MacIsaac, Jerry K Y Chan, Kok Hian Tan, Mary Foong Fong Chong, Michael S Kobor, Keith M Godfrey, Michael J Meaney, Yung Seng Lee, Johan G Eriksson, Peter D Gluckman, Yap Seng Chong, Neerja Karnani
doi : 10.1210/clinem/dgab710
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1277–e1292
Antenatal hyperglycemia is associated with increased risk of future adverse health outcomes in both mother and child. Variations in offspring’s epigenome can reflect the impact and response to in utero glycemic exposure, and may have different consequences for the child.
Lana Fani, Oscar Roa Dueñas, Daniel Bos, Meike W Vernooij, Caroline C W Klaver, M Kamran Ikram, Robin P Peeters, M Arfan Ikram, Layal Chaker
doi : 10.1210/clinem/dgab744
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1293–e1302
Whether thyroid dysfunction is related to altered brain circulation in the general population remains unknown.
Erin S LeBlanc, Teresa A Hillier
doi : 10.1210/clinem/dgab745
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1303–e1304
Matthias Heckmann, Stefan A Wudy
doi : 10.1210/clinem/dgab720
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1305–e1307
Melanie Goldfarb, Emily Christison-Lagay, Jeff Rastatter, Jonathan Wasserman
doi : 10.1210/clinem/dgab711
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1308–e1309
Ariel Cohen, Veronica Gomez-Lobo
doi : 10.1210/clinem/dgab723
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1310–e1311
Rachel Criswell, Megan E Romano
doi : 10.1210/clinem/dgab702
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1312–e1314
Pankaj Singhania, Rana Bhattacharjee
doi : 10.1210/clinem/dgab804
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1315–e1316
Steen Joop Bonnema, Kamilla Ryom Riis, Christian Zinck Jensen, Marianne Thvilum, Birte Nygaard
doi : 10.1210/clinem/dgab778
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1317–e1318
Bin Zhou, Xuerong Sun, Na Yu, Shu Zhang
doi : 10.1210/clinem/dgab764
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1319–e1320
Helena J Teede, Rhonda M Garad, Angela Melder, Robert J Norman, Jacqueline Boyle
doi : 10.1210/clinem/dgab656
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1321–e1322
Ayan Roy, Sadishkumar Kamalanathan, Jayaprakash Sahoo
doi : 10.1210/clinem/dgab727
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1323–e1324
Eleftheria Gkaniatsa, Eva Ekerstad, Manuela Gavric, Andreas Muth, Penelope Trimpou, Daniel S Olsson, Gudmundur Johannsson, Oskar Ragnarsson
doi : 10.1210/clinem/dgab805
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1325–e1326
Mohamed K M Shakir, Daniel I Brooks, Elizabeth A McAninch, Tatiana De Lourdes Fonseca, Vinh Q Mai, Antonio C Bianco, Thanh D Hoang
doi : 10.1210/clinem/dgab779
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1327–e1328
Xiao Gao, Shengxu Li, Shiqiu Dong, Jiaqi Li, Yinkun Yan, Tao Zhang, Wei Chen
doi : 10.1210/clinem/dgab765
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1329–e1330
Xi Chen, Devjit Tripathy
doi : 10.1210/clinem/dgab728
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1331–e1332
Paul S Thornton, Aristides K Maniatis, Elena Aghajanova, Elena Chertok, Elpis Vlachopapadopoulou, Zhengning Lin, Wenjie Song, Eva Dam Christoffersen, Vibeke Miller Breinholt, Tatiana Kovalenko, Elene Giorgadze, Maria Korpal-Szczyrska, Paul L Hofman, David B Karpf, Aimee D Shu, Michael Beckert
doi : 10.1210/clinem/dgab738
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Pages e1333–e1334
doi : 10.1210/clinem/dgab770
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Page e1335
doi : 10.1210/clinem/dgab735
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Page e1336
doi : 10.1210/clinem/dgab733
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Page e1337
doi : 10.1210/clinem/dgab730
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 3, March 2022, Page e1338
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