ORPHA:238666

Isolated congenital hypogonadotropic hypogonadism

Synonyms: Gonadotropic deficiency · Isolated congenital gonadotropin deficiency · Isolated gonadotropin-releasing hormone deficiency

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive, Oligogenic, Unknown, X-linked recessive
Age of onset: Adolescent, Infancy, Neonatal
Status: active

A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Isolated congenital hypogonadotropic hypogonadism	Gonadotropic deficiency · Isolated congenital gonadotropin deficiency · Isolated gonadotropin-releasing hormone deficiency
fr	Hypogonadisme hypogonadotrope congénital isolé	Déficit congénital isolé en gonadotropine · Déficit gonadotropique · Déficit isolé en hormone de libération des gonadotrophines
de	Hypogonadotroper Hypogonadismus, isolierter kongenitaler	Gonadotropin-Defizienz, isolierte kongenitale · Gonadotropin-Mangel · Isolierter Gonadotropin-Releasing-Hormon-Mangel
es	Hipogonadismo hipogonadotrópico congénito aislado	Deficiencia de gonadotropina congénita aislada · Deficiencia de hormona liberadora de gonadotropina aislada · Deficiencia gonadotrópica
it	Ipogonadismo ipogonadotropo congenito isolato
nl	Geïsoleerd congenitaal hypogonadotroop hypogonadisme	Geïsoleerde deficiëntie van gonadotropine-'releasing' hormoon · Geïsoleerde deficiëntie van gonadotropinevrijmakend hormoon · Deficiëntie van gonadotroop hormoon · Geïsoleerde congenitale deficiëntie van gonadotrofine
pt	Hipogonadismo hipogonadotrópico congénito isolado	Deficiência de gonadotropina congénita isolada · Deficiência de hormona libertadora de gonadotrofina isolada · Défice gonadotrópico
pl	Izolowany wrodzony hipogonadyzm hipogonadotropowy	= en
cs	Izolovaný vrozený hypogonadotropní hypogonadismus	= en
uk	Ізольований вроджений гіпогонадотропний гіпогонадизм	Гонадотропний дефіцит · Ізольований вроджений дефіцит гонадотропінів · Ізольований дефіцит гонадотропін-рилізинг-гормону
zh	孤立性先天性低促性腺素性功能减退症	= en
tr	İzole doğumsal hipogonadotropik hipogonadizm	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	E23.0	NTBT	attributed	validated
ICD-11	5A61.0	NTBT	index	validated
MONDO	0016553	E		validated
UMLS	C5679849	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97978Rare endocrine disease

Parents in the classifications (2):

ORPHA:174590Congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
ORPHA:399839Rare female infertility due to a congenital hypogonadotropic hypogonadism
rare genetic diseases; rare infertility disorders

Children (2):

Genes

0 direct · 42 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ANOS1	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:6211	ENSG00000011201	300836	Xp22.31	anosmin 1	21168128[PMID]
DCC	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:2701	ENSG00000187323	120470	18q21.2	DCC netrin 1 receptor	29202173[PMID]
FEZF1	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:22788	ENSG00000128610	613301	7q31.32	FEZ family zinc finger 1	25192046[PMID]
FGF8	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3686	ENSG00000107831	600483	10q24.32	fibroblast growth factor 8	18596921[PMID]_20463092[PMID]
FGF8	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3686	ENSG00000107831	600483	10q24.32	fibroblast growth factor 8	18596921[PMID]_20463092[PMID]
FGFR1	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3688	ENSG00000077782	136350	8p11.23	fibroblast growth factor receptor 1	17235395[PMID]
FGFR1	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3688	ENSG00000077782	136350	8p11.23	fibroblast growth factor receptor 1	17235395[PMID]
GNRHR	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4421	ENSG00000109163	138850	4q13.2	gonadotropin releasing hormone receptor	22918878[PMID]
HS6ST1	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:5201	ENSG00000136720	604846	2q14.3	heparan sulfate 6-O-sulfotransferase 1	21700882[PMID]
HS6ST1	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:5201	ENSG00000136720	604846	2q14.3	heparan sulfate 6-O-sulfotransferase 1	21700882[PMID]_23997646[PMID]
KISS1	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:6341	ENSG00000170498	603286	1q32.1	KiSS-1 metastasis suppressor	22335740[PMID]
KISS1R	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4510	ENSG00000116014	604161	19p13.3	KISS1 receptor	21193544[PMID]
PROK2	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:18455	ENSG00000163421	607002	3p13	prokineticin 2	17959774[PMID]_18682503[PMID]
PROK2	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:18455	ENSG00000163421	607002	3p13	prokineticin 2	18682503[PMID]
PROKR2	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:15836	ENSG00000101292	607123	20p12.3	prokineticin receptor 2	18682503[PMID]
PROKR2	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:15836	ENSG00000101292	607123	20p12.3	prokineticin receptor 2	18682503[PMID]
SEMA3A	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:10723	ENSG00000075213	603961	7q21.11	semaphorin 3A	22416012[PMID]
SOX10	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:11190	ENSG00000100146	602229	22q13.1	SRY-box transcription factor 10	23643381[PMID]
TAC3	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:11521	ENSG00000166863	162330	12q13.3	tachykinin precursor 3	19079066[PMID]
TACR3	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:11528	ENSG00000169836	162332	4q24	tachykinin receptor 3	19079066[PMID]
CCDC141	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:26821	ENSG00000163492	616031	2q31.2	coiled-coil domain containing 141	28324054[PMID]
CHD7	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) in	Assessed	HGNC:20626	ENSG00000171316	608892	8q12.2	chromodomain helicase DNA binding protein 7	18834967[PMID]
CHD7	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:20626	ENSG00000171316	608892	8q12.2	chromodomain helicase DNA binding protein 7	18834967[PMID]
DUSP6	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) in	Assessed	HGNC:3072	ENSG00000139318	602748	12q21.33	dual specificity phosphatase 6	23643382[PMID]
DUSP6	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:3072	ENSG00000139318	602748	12q21.33	dual specificity phosphatase 6	23643382[PMID]
EMX2	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) in	Assessed	HGNC:3341	ENSG00000170370	600035	10q26.11	empty spiracles homeobox 2	41765865[PMID]
EMX2	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:3341	ENSG00000170370	600035	10q26.11	empty spiracles homeobox 2	41765865[PMID]
FGF17	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) in	Assessed	HGNC:3673	ENSG00000158815	603725	8p21.3	fibroblast growth factor 17	23643382[PMID]
FGF17	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:3673	ENSG00000158815	603725	8p21.3	fibroblast growth factor 17	23643382[PMID]
FLRT3	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:3762	ENSG00000125848	604808	20p12.1	fibronectin leucine rich transmembrane protein 3	23643382[PMID]
GNRH1	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) in	Assessed	HGNC:4419	ENSG00000147437	152760	8p21.2	gonadotropin releasing hormone 1	20887715[PMID]_20389089[PMID]
HESX1	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:4877	ENSG00000163666	601802	3p14.3	HESX homeobox 1	23465708[PMID]
IL17RD	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:17616	ENSG00000144730	606807	3p14.3	interleukin 17 receptor D	23643382[PMID]
NDNF	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:26256	ENSG00000173376	616506	4q27	neuron derived neurotrophic factor	31883645[PMID]
NHLH2	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) in	Assessed	HGNC:7818	ENSG00000177551	162361	1p13.1	nescient helix-loop-helix 2	35066646[PMID]
NSMF	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) in	Assessed	HGNC:29843	ENSG00000165802	608137	9q34.3	NMDA receptor synaptonuclear signaling and neuronal migration factor
SPRY4	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) in	Assessed	HGNC:15533	ENSG00000187678	607984	5q31.3	sprouty RTK signaling antagonist 4	23643382[PMID]
SPRY4	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:15533	ENSG00000187678	607984	5q31.3	sprouty RTK signaling antagonist 4	23643382[PMID]
TACR3	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:11528	ENSG00000169836	162332	4q24	tachykinin receptor 3	23643382[PMID]_19079066[PMID]
WDR11	ORPHA:432Normosmic congenital hypogonadotropic hypogonadism	Disease-causing germline mutation(s) in	Assessed	HGNC:13831	ENSG00000120008	606417	10q26.12	WD repeat domain 11	20887964[PMID]
WDR11	ORPHA:478Kallmann syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:13831	ENSG00000120008	606417	10q26.12	WD repeat domain 11	20887964[PMID]
CCDC141	ORPHA:478Kallmann syndrome	Major susceptibility factor in	Assessed	HGNC:26821	ENSG00000163492	616031	2q31.2	coiled-coil domain containing 141	28324054[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET
Prevalence at birth	1-9 / 100 000	—	Worldwide	Class only	Validated	21682876[PMID]_ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/238666
This record as JSON: /data/d/238666.json