| Gene . | Condition/phenotype . | Locus . | Inheritance . | Site of defect . | OMIM number . |
|---|---|---|---|---|---|
Isolated hormone abnormalities | |||||
KAL1 | KS, renal agenesis, synkinesia | Xp22.3 | X-linked recessive | Hypothalamus | 308700 |
NELF | KS | 9q34.3 | Hypothalamus, olfactory apparatus | 608137 | |
GPR54 | nIHH | 19p13.3 | AR | Hypothalamus | 604161 |
KISS-1 | nIHH | 1q32 | AR | Hypothalamus | 603286 |
FGFR-1 | nIHH and KS, cleft lip and palate, facial dysmorphism | 8p11.2–11.1 | AD, AR,? dosage effect | Hypothalamus | 136350 |
GnRH1 | nIHH | 8p21–11.2 | AR | Hypothalamus | 152760 |
GnRH | No known mutations | 8p21–11.2 | ? | ||
GnRHR | nIHH | 4q21.2 | AR | Pituitary | 138850 |
PROK2 | KS and nIHH, severe sleep disorder, obesity | 3p21.1 | AD | Hypothalamus, olfactory bulb | 607002 |
PROKR2 | KS and nIHH | 20p13 | AD, AR | Hypothalamus, olfactory bulb | 607123 |
TAC3 | nIHH | 12q13–21 | AR | Hypothalamus | 162330 |
TACR3 | nIHH | 4q25 | AR/AD | Hypothalamus | 162332 |
Leptin | HH and obesity | 7q31.3 | AR | Hypothalamus | 164160 |
Leptin R | HH and obesity | 1q31 | AR | Hypothalamus | 601007 |
DAX-1 | AHC and HH | Xp21 | X-linked | Hypothalamus, pituitary | 300200 |
PC-1 | Obesity and HH, ACTH deficiency, hypoglycaemia, gastrointestinal sx | 5q15–21 | AR | Widespread, including hypothalamus | 162150 |
LHβ | Isolated LH deficiency, delayed puberty | 19q13.32 | AR | Pituitary | 152780 |
FSHβ | Isolated FSH deficiency, primary amenorrhoea, defective spermatogenesis | 11p13 | AR | Pituitary | 136530 |
Combined pituitary hormone deficiency | |||||
PROP1 | GH, TSH, LH, FSH, prolactin, and evolving ACTH deficiencies | 5q | AR | Pituitary | 601538 |
Specific syndrome | |||||
HESX1 | SOD and other pituitary deficits including HH | 3q21.1–21.2 | AR, AD | Pituitary | 601802 |
SOX3 | Pituitary hormone deficits including HH, mental retardation | Xq26.3 | X-linked | Hypothalamus, pituitary | 313430 |
SOX2 | An/micro-ophthalmia, anterior pituitary hypoplasia, HH, oesophageal atresia | 3q26.3–27 | X-linked | Hypothalamus, pituitary | 184429 |
GLI2 | Holoprosencephaly with MPHD including HH, multiple midline defects | 2q14 | AD, AR | Hypothalamus, pituitary | 165230 |
LHX3 | Variable CPHD including HH, limited neck rotation | 9q34.3 | AR | Pituitary | 600577 |
CHD7 | CHARGE syndrome, may have Kallmann syndrome as primary feature | 8q12.1 | AD, de novo | Hypothalamus | 608892 |
| Gene . | Condition/phenotype . | Locus . | Inheritance . | Site of defect . | OMIM number . |
|---|---|---|---|---|---|
Isolated hormone abnormalities | |||||
KAL1 | KS, renal agenesis, synkinesia | Xp22.3 | X-linked recessive | Hypothalamus | 308700 |
NELF | KS | 9q34.3 | Hypothalamus, olfactory apparatus | 608137 | |
GPR54 | nIHH | 19p13.3 | AR | Hypothalamus | 604161 |
KISS-1 | nIHH | 1q32 | AR | Hypothalamus | 603286 |
FGFR-1 | nIHH and KS, cleft lip and palate, facial dysmorphism | 8p11.2–11.1 | AD, AR,? dosage effect | Hypothalamus | 136350 |
GnRH1 | nIHH | 8p21–11.2 | AR | Hypothalamus | 152760 |
GnRH | No known mutations | 8p21–11.2 | ? | ||
GnRHR | nIHH | 4q21.2 | AR | Pituitary | 138850 |
PROK2 | KS and nIHH, severe sleep disorder, obesity | 3p21.1 | AD | Hypothalamus, olfactory bulb | 607002 |
PROKR2 | KS and nIHH | 20p13 | AD, AR | Hypothalamus, olfactory bulb | 607123 |
TAC3 | nIHH | 12q13–21 | AR | Hypothalamus | 162330 |
TACR3 | nIHH | 4q25 | AR/AD | Hypothalamus | 162332 |
Leptin | HH and obesity | 7q31.3 | AR | Hypothalamus | 164160 |
Leptin R | HH and obesity | 1q31 | AR | Hypothalamus | 601007 |
DAX-1 | AHC and HH | Xp21 | X-linked | Hypothalamus, pituitary | 300200 |
PC-1 | Obesity and HH, ACTH deficiency, hypoglycaemia, gastrointestinal sx | 5q15–21 | AR | Widespread, including hypothalamus | 162150 |
LHβ | Isolated LH deficiency, delayed puberty | 19q13.32 | AR | Pituitary | 152780 |
FSHβ | Isolated FSH deficiency, primary amenorrhoea, defective spermatogenesis | 11p13 | AR | Pituitary | 136530 |
Combined pituitary hormone deficiency | |||||
PROP1 | GH, TSH, LH, FSH, prolactin, and evolving ACTH deficiencies | 5q | AR | Pituitary | 601538 |
Specific syndrome | |||||
HESX1 | SOD and other pituitary deficits including HH | 3q21.1–21.2 | AR, AD | Pituitary | 601802 |
SOX3 | Pituitary hormone deficits including HH, mental retardation | Xq26.3 | X-linked | Hypothalamus, pituitary | 313430 |
SOX2 | An/micro-ophthalmia, anterior pituitary hypoplasia, HH, oesophageal atresia | 3q26.3–27 | X-linked | Hypothalamus, pituitary | 184429 |
GLI2 | Holoprosencephaly with MPHD including HH, multiple midline defects | 2q14 | AD, AR | Hypothalamus, pituitary | 165230 |
LHX3 | Variable CPHD including HH, limited neck rotation | 9q34.3 | AR | Pituitary | 600577 |
CHD7 | CHARGE syndrome, may have Kallmann syndrome as primary feature | 8q12.1 | AD, de novo | Hypothalamus | 608892 |
ACTH, adrenocorticotropic hormone; AD, autosomal dominant; AHC, adrenal hypoplasia congenita; AR, autosomal recessive; CRH, corticotropin-releasing hormone; FSH, follicle-stimulating hormone; GH, growth hormone; HH, hypogonadotropic hypogonadism; KS, Kallmann syndrome; LH, luteinizing hormone; MPHD, multiple pituitary hormone deficiency; nIHH, normosmic idiopathic hypogonadotropic hypogonadism; OMIM, online mendelian inheritance in man; R, receptor; SOD, septo-optic dysplasia; TSH, thyroid stimulating hormone; XL, X-linked;
Adapted from Mehta and Dattani (14).
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