Table 3 Summary of endocrine conditions reported in patients with CHARGE syndrome

Hypogonadotropic hypogonadism

Genital hypoplasia (micropenis, cryptorchidism, hypoplastic labia/clitoris), pubertal delay/arrest

50-70%

Testosterone/Oestrogen replacement therapy

HHG in association with anosmia overlaps with Kallmann syndrome [15]

Hypothyroidism

Jaundice, lethargy and feeding difficulties (newborn), failure to thrive

15-20%

Thyroxine replacement therapy

Routine biochemical assessment of thyroid function not necessary, reserved for patients with clinical features of hypothyroidism [16]

GH deficiency

Poor growth, short stature, hypoglycemia

9%

GH replacement therapy

Short stature in CS usually not solely due to hormone deficiency [17]

Secondary hypoadrenalism

Adrenal crisis with hypoglycemia and hyponatremia

n.a

Hydrocortisone

Not observed in large cohorts of subjects [12, 13]

Congenital hypopituitarism

Multiple pituitary hormone deficiencies

n.a

Hormone replacement therapy

Associated with structural anomalies of the anterior or posterior pituitary gland [11]

Hypoparathyroidism

Hypocalcemia

n.a.

Activated vitamin D (calcitriol) and calcium supplements

HP, also seen in association with immunological anomalies, overlaps with Di George syndrome [18]

Hyperinsulinemic hypoglycemia

Hypoglycemia

n.a

Diazoxide

Reported in a 2-year-old Japanese male patient by Sekiguchi et al. [7]