System | Mutated target gene | Endocrine disorder |
---|---|---|
Growth | GHRH receptor | Familial GH deficiency1 |
GH-1 | Short stature with bioinactive GH2 | |
Pit-1 | Combined pituitary hormone deficiency3-5 | |
GH receptor | GH insensitivity in familial short stature6 | |
IGF-I | Intrauterine and postnatal growth retardation with IGF-I deficiency7 | |
SHOX | Turner’s syndrome, idiopathic short stature8 | |
Sex differentiation, | SRY | XY female with gonadal dysgenesis9-11 |
puberty, and fertility | DAX1 | Hypogonadotropic hypogonadism12 |
SOX9 | Campomelic dysplasia with sex reversal13 | |
AMH receptor | Persistent müllerian structures in a male14 | |
KAL | X linked Kallmann’s syndrome15 | |
LH receptor: | ||
Activation | Familial male precocious puberty16 | |
Inactivation | Male pseudohermaphroditism17 | |
FSH receptor: | ||
Activation | Sustained spermatogenesis in a male with treated hypopituitarism18 | |
Inactivation | Hypergonadotropic ovarian dysgenesis19 | |
LH | Male hypogonadism20 | |
FSH | Female infertility21 | |
Oestrogen receptor | Tall stature in male22 | |
Aromatase P450 (CYP19) | Tall stature in a male and female pseudohermaphroditism23 | |
Gs-protein | McCune-Albright syndrome24 | |
Thyroid | TSH receptor: | |
Inactivation | Familial hypothyroidism25 | |
Activation | Non-autoimmune hyperthyroidism26 27 | |
Hyperfunctioning thyroid adenomas28 | ||
Calcium homoeostasis | PTH | Hypoparathyroidism29 30 |
Calcium sensing receptor: | ||
Inactivation | Familial hypocalciuric hypercalcaemia and severe neonatal primary hyperparathyroidism31 | |
Activation | Familial hypocalcaemia32 | |
Gs-protein | Pseudohypoparathyroidism33 34 | |
Adrenal axis | ACTH receptor | Familial ACTH resistance35 36 |
DAX1 | X linked congenital adrenal hypoplasia12 | |
Water balance | Prepro-AVP-NPII | Autosomal dominant neurogenic diabetes insipidus37 38 |
V2 vasopressin receptor | X linked nephrogenic diabetes insipidus39 | |
Aquaporin-2 | Autosomal recessive nephrogenic diabetes insipidus40 41 | |
Bones | FGFR-3 | Achondroplasia42 43 |
Thanatophoric dysplasia44 | ||
Hypochondroplasia45 | ||
Diastrophic dysplasia sulphate transporter | Diastrophic dysplasia46 | |
Achondrogenesis type 1B47 | ||
Atelosteogenesis type II48 | ||
PEX | X linked hypophosphatemic rickets49 | |
PTH receptor | Jansen’s metaphyseal chondrodysplasia50 | |
Pancreas | Sulphonylurea receptor and KATPchannel | Persistent hyperinsulinaemic hypoglycaemia of infancy51 52 |
ACTH=adrenocorticotrophic hormone; AMH = anti-müllerian hormone; AVP = arginine vasopressin; FGFR = fibroblast growth factor receptor; FSH=follicle stimulating hormone; GH=growth hormone; GHRH=growth hormone releasing hormone; IGF=insulin-like growth factor; LH=luteinising hormone; NP = neurophysin; PTH=parathyroid hormone; TSH=thyroid stimulating hormone.