Normosmic congenital hypogonadotropic…

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Normosmic congenital hypogonadotropic hypogonadism

ORPHA:432Clinical subtype

Also called Normosmic idiopathic hypogonadotropic hypogonadism · nIHH

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive
Classified as
Clinical subtype

Recorded for the broader condition

Prevalence
1-9 / 100 000 (at birth)Isolated congenital hypogonadotropic hypogonadism

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

CHD7Disease-causing germline mutation(s)
DUSP6Disease-causing germline mutation(s)
EMX2Disease-causing germline mutation(s)
FGF17Disease-causing germline mutation(s)
FGF8Disease-causing germline mutation(s) (loss of function)
FGFR1Disease-causing germline mutation(s) (loss of function)
GNRH1Disease-causing germline mutation(s)
GNRHRDisease-causing germline mutation(s) (loss of function)
HS6ST1Disease-causing germline mutation(s) (loss of function)
KISS1Disease-causing germline mutation(s) (loss of function)
KISS1RDisease-causing germline mutation(s) (loss of function)
NHLH2Disease-causing germline mutation(s)
NSMFDisease-causing germline mutation(s)
PROK2Disease-causing germline mutation(s) (loss of function)
PROKR2Disease-causing germline mutation(s) (loss of function)
SPRY4Disease-causing germline mutation(s)
TAC3Disease-causing germline mutation(s) (loss of function)
TACR3Disease-causing germline mutation(s) (loss of function)
WDR11Disease-causing germline mutation(s)

ICD-10 codes

E23.0filed under a broader ICD-10 category — shared with 23 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

MONDO 0018555OMIM 146110OMIM 147950OMIM 244200OMIM 308700OMIM 610628OMIM 612370OMIM 612702OMIM 614837OMIM 614838OMIM 614839OMIM 614840OMIM 614841OMIM 614842OMIM 614858OMIM 614880OMIM 615266OMIM 615269OMIM 615270OMIM 619755UMLS C5680088

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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