🇫🇷 Fiche Orphanet officielle

Hypogonadisme hypogonadotrope congénital sans anosmie

ORPHA:432Sous-type d'une pathologieCIM-10 : E23.0CIM-11 : 5A61.0OMIM : 146110

Synonymes : Hypogonadisme hypogonadotrope idiopathique sans anosmie · nIHH

🩺 Symptômes & manifestations cliniques

38 phénotypes HPO annotés Orphanet

🔴 Très fréquent (99-80%) — 21

Cryptorchidism
Hypogonadotropic hypogonadism
Micropenis
Phenotypic abnormality
Female hypogonadism
Primary amenorrhea
Impotence
Abnormality of the voice
Sparse body hair
Delayed skeletal maturation
Breast hypoplasia
Eunuchoid habitus
Wide intermamillary distance
Absence of secondary sex characteristics
Absence of pubertal development
Decreased testicular size
Non-obstructive azoospermia
Increased female libido
Decreased serum testosterone concentration
Male hypogonadism
Azoospermia

🟠 Fréquent (79-30%) — 10

Abnormality of body height
Hypoplasia of the uterus
Depression
Anxiety
Gynecomastia
Delayed puberty
Secondary amenorrhea
Osteopenia
Osteoporosis
Hypoplasia of the ovary

🟡 Occasionnel / autres (7) ↓

Abnormality of the dentition(Occasionel (29-5%))
Cleft palate(Occasionel (29-5%))
Hypertelorism(Occasionel (29-5%))
Generalized joint hypermobility(Occasionel (29-5%))
Depressed nasal bridge(Occasionel (29-5%))
Congenital sensorineural hearing impairment(Occasionel (29-5%))
Camptodactyly(Occasionel (29-5%))

🔀 Diagnostic différentiel

Maladies rares qui partagent le plus de phénotypes discriminants avec Hypogonadisme hypogonadotrope congénital sans anosmie. Calcul automatique sur les annotations HPO/Orphanet — à confronter au tableau clinique réel.

🔬 Examens & investigations

📋 PNDS — recommandations officielles françaises

Le Protocole National de Diagnostic et Soins est le référentiel HAS pour la prise en charge d'une maladie rare en France. Environ 300 maladies en disposent (plus rare que la maladie elle-même → plus de chances qu'il n'existe pas).

🏥 Centres experts

Liste Orphanet officielle des centres experts pour cette maladie spécifique (CRMR / CCMR) — coordonnées et coordinateurs.

📍 Trouver un spécialiste près de chez vous

Entrez votre ville ou code postal pour filtrer l'annuaire MonRhumato et localiser les centres experts les plus proches.

🔍 Annuaire MonRhumato →🗺️ Google Maps ↗

🧬 Gènes associés & variants

EMX210q26.11
ClinVar : 99 variants
Disease-causing germline mutation(s) inAssessed
PROK23p13
ClinVar : 142 variants
Disease-causing germline mutation(s) (loss of function) inAssessed
PROKR220p12.3
Disease-causing germline mutation(s) (loss of function) inAssessed
CHD78q12.2
Disease-causing germline mutation(s) inAssessed
FGFR18p11.23
Disease-causing germline mutation(s) (loss of function) inAssessed
GNRHR4q13.2
Disease-causing germline mutation(s) (loss of function) inAssessed
KISS1R19p13.3
Disease-causing germline mutation(s) (loss of function) inAssessed
NSMF9q34.3
Disease-causing germline mutation(s) inAssessed
GNRH18p21.2
Disease-causing germline mutation(s) inAssessed
FGF810q24.32
Disease-causing germline mutation(s) (loss of function) inAssessed
TAC312q13.3
Disease-causing germline mutation(s) (loss of function) inAssessed
TACR34q24
Disease-causing germline mutation(s) (loss of function) inAssessed
WDR1110q26.12
Disease-causing germline mutation(s) inAssessed
HS6ST12q14.3
Disease-causing germline mutation(s) (loss of function) inAssessed
KISS11q32.1
Disease-causing germline mutation(s) (loss of function) inAssessed
FGF178p21.3
Disease-causing germline mutation(s) inAssessed
DUSP612q21.33
Disease-causing germline mutation(s) inAssessed
SPRY45q31.3
Disease-causing germline mutation(s) inAssessed
NHLH21p13.1
Disease-causing germline mutation(s) inAssessed

Codifications validées (23) ↓

ICD-10:E23.0
ICD-11:5A61.0
MONDO:0018555
OMIM:146110
OMIM:147950
OMIM:244200
OMIM:308700
OMIM:610628
OMIM:612370
OMIM:612702
OMIM:614837
OMIM:614838
OMIM:614839
OMIM:614840
OMIM:614841
OMIM:614842
OMIM:614858
OMIM:614880
OMIM:615266
OMIM:615269
OMIM:615270
OMIM:619755
UMLS:C5680088

Pour aller plus loin (sources publiques)

📚 PubMed récent 🔍 Rhumatologues

Toutes les données médicales : Orphadata (Orphanet, INSERM US14, CC-BY-4.0). Variants : ClinVar (NCBI). Phénotypes : HPO (Jackson Lab). Fiche purement sourcée — aucune donnée hardcodée.