Endocrine

46XY Sex reversal

ACTH-independent macronodular adrenal hyperplasia

adrenocorticotropic hormone deficiency (ACTH)

Adrenogenital syndrome (AGS)

Adrenoleukodystrophy

Aldosterone synthase deficiency

Alstrom syndrome

Antley-Bixler type syndrome

Apparent mineralocorticoid excess (AME)

Central precocious puberty (pubertas praecox)

CHARGE syndrome

Corticosterone methyloxidase deficiency

Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (WES)

Glucocorticoid deficiecy

Glucocorticoid receptor deficiency

Glucocorticoid Remediabel Aldosteronism

Hyperaldosteronism, familial

Hypertension, autosomal dominant

Hypogonadotropic hypogonadism with or without anosmia

Hypoparathyroidism, sensorineural deafness and renal dysplasia

Kallmann syndrome

Langer mesomelic dysplasia

Leydig cell hypoplasia

Liddle syndrome

Luteinizing hormone resistance

Multiple endocrine neoplasia type 1 (MEN1)

Multiple endocrine neoplasia type 2 (MEN2)

Paraganglioma and pheochromocytoma, Hereditary

Premature ovarian failure

Pseudohypoaldosteronism

Pseudohypoaldosteronism type 1

Short stature

Tall stature

Testotoxicosis, familial

Ulnar-mammary syndrome

Von Hippel-Lindau syndrome

Y-chromosomal aberrations