Genes
CYP21A2
21-hydroxylase deficiency CAH
Precocious puberty, cafe-au-lait macules, skeletal dysplasia
TSH and TSH receptor
Glycoprotein / 7 transmembrane G-protein coupled receptor
congenial hypothyroidism
thyroid dysgenesis/agenesis
high-iodine induced decreased expression of the sodium-iodide symporter and TPO
Wolff-Chaikoff
KISS1
Isolated GnRH deficiency
hypogonadism, scoliosis, obesity
Prader Willi Syndrome
Progesterone and progesterone receptor
Steroid / nuclear receptor
delayed puberty in a 15 year old male
constitutional growth delay
high TSH induced precocious puberty
Van Wyk-Grumback
AQP2
congenital nephrogenic diabetes insipidus
parathyroid adenoma, pancreatic islet cell tumors, prolactinoma
MEN1
Thyroid hormone and thyroid hormone receptor
Peptide / Nuclear receptor
precocious puberty in a 5 year old boy
CNS lesion
mutation of imprinted gene, macroglossia, hemihypertrophy
Beckwith-Wiedemann
AIRE
APS-1 (autoimmune polygladular-candidiasis-ectodermal dystrophy)
precocious puberty, gelastic seizures
hypothalamic hamartoma
Insulin and insulin receptor
Peptide / Receptor tyrosine kinase
hypothyroidism (worldwide)
iodine deficiency
mutation of FBN1, tall stature, pectus excavatum, dislocation of the lens
Marfan
KCNJ11
Congenital hyperinsulinism
immune dysfunction, polyendocrinopathy, enteropathy
IPEX
FGF23 and it's receptor apparatus
Glycoprotein / Receptor tyrosine kinase + Klotho
rickets
methylation defect at 11p15.5 (65%) or uniparental disomy of chromosome 7 (10%)
Russel-Silver