HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 228300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000054) Micropenis 257 / 7739
2
(HPO:0012215) Testicular microlithiasis 2 / 7739
3
(HPO:0000869) Secondary amenorrhea 42 / 7739
4
(HPO:0000771) Gynecomastia 53 / 7739
5
(HPO:0008226) Androgen insufficiency 1 / 7739
6
(HPO:0002225) Sparse pubic hair 76 / 7739
7
(HPO:0002215) Sparse axillary hair 21 / 7739
8
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
9
(OMIM) Eunuchoidal features 1 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) ICSH (LH) deficiency 1 / 7739
12
(OMIM) Normal spermatogenesis 1 / 7739
13
(OMIM) Deficient LH, and normal FSH, by radioimmunoassay 1 / 7739
14
(OMIM) Abnormal sperm count, morphology and mobility 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM McCullagh et al. (1953) described 5 patients with hypogonadotropic hypogonadism in the presence of normal testicular size and some degree of spermatogenesis. They designated the disorder fertile eunuch syndrome. One patient had a brother with eunuchoidal features who ...
Molecular genetics OMIM In a patient with fertile eunuch syndrome, Pitteloud et al. (2001) identified homozygosity for a gln106-to-arg (Q106R) mutation (138850.0001) in the GNRHR gene.