Specific

ACTH-independent macronodular adrenal hyperplasia (AIMAH); adrenal Cushing syndrome due to AIMAH adrenocortical insufficiency without ovarian defect androgen insensitivity syndrome; testicular feminization syndrome; Goldberg-Maxwell syndrome aromatase deficiency autosomal dominant hypoparathyroidism; familial isolated hypoparathyroidism; autosomal dominant hypocalcemia combined pituitary hormone deficiency (pituitary dwarfism 3) congenital adrenal hypoplasia congenital hypothyroidism non-goitrous type 1 (CHNG1); congenital hypothyroidism due to TSH resistance developmental disorder of aldosterone deficiency familial combined pituitary hormone deficiency familial glucocorticoid deficiency familial hypocalciuric hypercalcemia familial precocious puberty glucocorticoid suppressible hyperaldosteronism (GSH); glucocorticoid remediable aldosteronism (GRA) growth hormone deficiency isolated type 1A; pituitary dwarfism I (IGHD1A) growth hormone deficiency isolated type 1B; dwarfism of Sindh (IGHD1B) growth hormone deficiency isolated type 2; dwarfism of Sindh (IGHD1B) hyperinsulinism-hyperammonemia syndrome infundibular hypoplasia & hypopituitarism Kowarski syndrome; pituitary dwarfism VI leprechaunism (Donohue syndrome) leucine-induced hypoglycemia; leucine-sensitive hypoglycemia of infancy Leydig cell hypoplasia mineralocorticoid excess mineralocorticoid receptor activation neonatal severe primary hyperparathyroidism pancreatic agenesis pro-opiomelanocortin (POMC) deficiency pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 2 (Gordon syndrome) Rabson-Mendenhall syndrome (Mendenhall syndrome) sex reversal disorder somatotrophinoma (growth hormone secreting pituitary tumor) Wolfram syndrome; diabetes insipidus & mellitus with optic atrophy & deafness syndrome (DIDMOAD) X-linked adrenal hypoplasia congenital youth-onset type 2 diabetes; mature onset diabetes of the young (MODY)

General

chronic endocrine disease genetic disease