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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessHypogonadism, hypogonadotropic; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Hypogonadism, hypogonadotropic comprising 14 or altogether 62 curated genes according to the clinical signs

ID
HP0220
Number of genes
55 Accredited laboratory test
Examined sequence length
25,3 kb (Core-/Core-canditate-Genes)
100,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ANOS12043XLR
CHD78994AD
FEZF11428AR
FGF8735AD
FGFR12469AR
GNRH1291AR
GNRHR987AR
IL17RD2220AR
KISS1R1197AR
NSMF1587AD
PROK2390AD, AR
PROKR21155AD, AR
TAC3366AR
TACR31398AR
CLPP834AR
CPE1431AR
CUL4B2742XLR
DCAF171563AR
DUSP61146AD
FGF17651AD
FLRT31950AD
FSHB390AR
GLI24761AD
HAMP255AR
HESX1558AD, AR
HFE1047AR
HS6ST11236AD
KISS1417AR
KLB3135AD
LEP504AR
LEPR3498AR
LHB426AR
LHX31209AR
LHX41173AD
NR0B11413XL
PCSK12262AR
PNPLA63984AR
POLR3A4173AR
POLR3B3402AR
POU1F1876AR
PROP1681AR
RAB3GAP12946AR
RAB3GAP24182AR
RNF2162772AR
SEMA3A2316AD
SLC29A31428AR
SLC40A11716AD
SOX101401AD
SOX2954AD
SPRY4969AD
STUB1912AD, AR
TCF122121AR
TFR22406AD
TUBB31353AD
WDR113675AD, digenisch

Informations about the disease

Clinical Comment

Hypogonadotropic hypogonadism (HH) is either due to low concentrations of sexual steroids (oestrogen, progesterone) or gonadotropins (FSH, LH) with hypothalamic or pituitary causes. The majority of cases is diagnosed in men; women usually have primary amenorrhoea, which is often not genetic. HH can occur congenitally or later, and is usually diagnosed definitively at the age of 18 years. The detection rate is significantly higher in congenital HH (35-60%) than in late puberty as an expression of later manifested forms of HH that cannot be clinically distinguished. Statements on penetrance rates and expressivity must be made on the basis of genes or mutations. An inconspicuous genetic finding certainly does not mean that the suspected clinical diagnosis is excluded.

Reference: https://www.nature.com/articles/nrendo.2015.112

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7520594/

 

Synonyms
  • Allelic: CHARGE syndrome (CHD7)
  • Allelic: Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
  • Allelic: Encephalocraniocutaneous lipomatosis; Hartsfield syndrome; Jackson-Weiss syndrome (FGFR1)
  • Allelic: Fascioscapulohumeral muscular dystrophy 2, digenic (SMCHD1)
  • Allelic: Hartsfield syndrome (FGFR1)
  • Allelic: Holoprosencephaly 9 (GLI2)
  • Allelic: Jackson-Weiss syndrome (FGFR1)
  • Allelic: Laurence-Moon syndrome (PNPLA6)
  • Allelic: Microphthalmia, syndromic 3 (SOX2)
  • Allelic: Obesity, susceptibility to, BMIQ12 (PCSK1)
  • Allelic: Obesity, susceptibility to, BMIQ14 (FTO)
  • Allelic: Oliver-McFarlane syndrome (PNPLA6)
  • Allelic: Osteoglophonic dysplasia (FGFR1)
  • Allelic: Osteoglophonic dysplasia; Pfeiffer syndrome; Trigonocephaly 1 (FGFR1)
  • Allelic: PCWH syndrome (SOX10)
  • Allelic: Pfeiffer syndrome (FGFR1)
  • Allelic: Precocious puberty, central, 1 (KISS1R)
  • Allelic: Septooptic dysplasia (HESX1)
  • Allelic: Spastic paraplegia 39, AR (PNPLA6)
  • Allelic: Treacher Collins syndrome 3 (POLRR1C)
  • Allelic: Trigonocephaly 1 (FGFR1)
  • Allelic: Wiedemann-Rautenstrauch syndrome (POLR3A)
  • 46XY sex reversal 2, dosage-sensitive (NR0B1)
  • Adrenal hypoplasia, congenital (NR0B1)
  • Allelic: Blood group, John-Milton-Hagen system (SEMA7A)
  • Allelic: Luteinizing hormone resistance, female (LHCGR)
  • Allelic: Precocious puberty, male (LHCGR)
  • Alopecia, neurologic defects + endocrinopathy syndrome (RBM28)
  • Bardet-Biedl syndrome genes (Rp, obesity, kidney dysfunction, hypogonadism...)
  • Bosma arhinia microphthalmia syndrome (SMCHD1)
  • Boucher-Neuhauser syndrome (PNPLA6)
  • CHARGE syndrome (SEMA3E)
  • Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
  • Congenital hypogonadotropic hypogonadism (KLB)
  • Congenital hypogonadotropic hypogonadism [MONDO:0015770] (CCDC141)
  • Craniosynostosis 3 (TCF12)
  • Culler-Jones syndrome (GLI2)
  • Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Growth hormone deficiency with pituitary anomalies (HESX1)
  • Growth retardation, developmental delay, facial dysmorphism (FTO)
  • Hemochromatosis (HFE)
  • Hemochromatosis, type 2B (HAMP)
  • Hemochromatosis, type 3 (TFR2)
  • Hemochromatosis, type 4 (SLC40A1)
  • Histiocytosis-lymphadenopathy plus syndrome (SLC29A3)
  • Hypogonadotropic hypogonadism 1 with/-out anosmia; Kallmann syndrome 1 (ANOS1)
  • Hypogonadotropic hypogonadism 10 with/-out anosmia (TAC3)
  • Hypogonadotropic hypogonadism 11 with/-out anosmia (TACR3)
  • Hypogonadotropic hypogonadism 12 with/-out anosmia (GNRH1)
  • Hypogonadotropic hypogonadism 13 with/-out anosmia (KISS1)
  • Hypogonadotropic hypogonadism 14 with/-out anosmia (WDR11)
  • Hypogonadotropic hypogonadism 15 with/-out anosmia (HS6ST1)
  • Hypogonadotropic hypogonadism 16 with/-out anosmia (SEMA3A)
  • Hypogonadotropic hypogonadism 17 with/-out anosmia (SPRY4)
  • Hypogonadotropic hypogonadism 18 with/-out anosmia (IL17RD)
  • Hypogonadotropic hypogonadism 19 with/_out anosmia (DUSP6)
  • Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Hypogonadotropic hypogonadism 20 with/-out anosmia (FGF17)
  • Hypogonadotropic hypogonadism 21 with anosmia (FLRT3)
  • Hypogonadotropic hypogonadism 22, with/-out anosmia (FEZF1)
  • Hypogonadotropic hypogonadism 23 with/-out anosmia (LHB)
  • Hypogonadotropic hypogonadism 24 without anosmia (FSHB)
  • Hypogonadotropic hypogonadism 25 with anosmia (NDNF)
  • Hypogonadotropic hypogonadism 3 with/-out anosmia (PROKR2)
  • Hypogonadotropic hypogonadism 4 with/-out anosmia (PROK2)
  • Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
  • Hypogonadotropic hypogonadism 7 without anosmia (GNRHR)
  • Hypogonadotropic hypogonadism 8 with/-out anosmia (KISS1R)
  • Hypogonadotropic hypogonadism 9 with/_out anosmia (NSMF)
  • Hypogonadotropic hypogonadism without anosmia; normosmic IHH [panelapp] (CCDC141)
  • Hypogonadotropic hypogonadism, delayed puberty, primary ovary insufficiency [panelapp] (IGSF10)
  • Intellectual developmental disorder + hypogonadotropic hypogonadism (CPE)
  • Isolated GnRH deficiency [genereviews] (AXL)
  • Isolated GnRH deficiency [genereviews] (SRA1)
  • Leukodystrophy, hypomyelinating, 11 (POLR1C)
  • Leukodystrophy, hypomyelinating, 7, with/-out oligodontia and/or hypogon. hypogonadism (POLR3A)
  • Leukodystrophy, hypomyelinating, 8, with/-out oligodontia and/or hypogon. hypogonadism (POL3RB)
  • Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
  • Martsolf syndrome 1 (RAB3GAP2)
  • Martsolf syndrome 2 (RAB3GAB1)
  • Mental retardation, XL, syndromic 15 [Cabezas type] (CUL4B)
  • Obesity with impaired prohormone processing (PCSK1)
  • Obesity, morbid, due to leptin deficiency (LEP)
  • Obesity, morbid, due to leptin receptor deficiency (LEPR)
  • Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
  • PCWH syndrome (SOX10)
  • Perrault syndrome 3 (CLPP)
  • Pituitary hormone deficiency, combined, 1 (POUF1)
  • Pituitary hormone deficiency, combined, 2 (PROP1)
  • Pituitary hormone deficiency, combined, 3 (LHX3)
  • Pituitary hormone deficiency, combined, 4 (LHX4)
  • Pituitary hormone deficiency, combined, 5 (HESX1)
  • Prader-Willi syndrome (NDN, SIM1, SNRPN)
  • Spinocerebellar ataxia, AR 16 (STUB1)
  • Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
  • Waardenburg syndrome, type 4C (SOX10)
  • Warburg micro syndrome 1 (RAB3GAP1)
  • Warburg micro syndrome 2 (RAB3GAP2)
  • Woodhouse-Sakati syndrome (DCAF17)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q55.-

Bioinformatics and clinical interpretation

No text defined