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Comorbidities associated with holoprosencephaly and diagnostic laboratory tests

Comorbidities associated with holoprosencephaly and diagnostic laboratory tests
Comorbidity Laboratory test
Diabetes insipidus
  • Serum electrolytes
  • Plasma and urine osmolality
  • Plasma and urine antidiuretic hormone (ADH)
Growth hormone deficiency
  • Insulin-like growth factor I (IGF-I)
  • Insulin-like growth factor binding protein 3 (IGFBP-3)
  • Bone age
Adrenal hypoplasia
  • 8 AM serum cortisol and plasma adrenocorticotropin hormone (ACTH)
  • ACTH stimulation test
Hypogonadism
  • Serum luteinizing hormone (LH) and follicle-stimulating hormone (FSH)
  • Testosterone in males
  • Estradiol in females
Thyroid hypoplasia
  • Serum thyroxine (T4)
  • Thyroid-stimulating hormone (TSH)
Courtesy of Angela Volk, MD and Larry H Hollier, Jr, MD.
Graphic 122479 Version 1.0