HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH11
Number of Symptoms 14
OrphanetNr:
OMIM Id: 614840
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:0008734) Decreased testicular size 105 / 7739
2
(HPO:0000028) Cryptorchidism 347 / 7739
3
(HPO:0000044) Hypogonadotrophic hypogonadism 19079066 IBIS 56 / 7739
4
(HPO:0000786) Primary amenorrhea 61 / 7739
5
(HPO:0000054) Micropenis 257 / 7739
6
(HPO:0008197) Absence of pubertal development 19079066 IBIS 2 / 7739
7
(HPO:0030260) Microphallus 6 / 7739
8
(OMIM) Low testosterone levels in males 2 / 7739
9
(OMIM) Low estradiol levels in females 3 / 7739
10
(OMIM) Low or normal serum gonadotropins 3 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Patients have normal pituitary function 4 / 7739
13
(OMIM) Absent or delayed puberty 11 / 7739
14
(OMIM) Delayed or absent thelarche 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary ...
Molecular genetics OMIM Topaloglu et al. (2009) performed genomewide SNP analysis in 9 unrelated consanguineous Turkish and Kurdish families with normosmic IHH and identified a region of homozygosity on chromosome 4q that segregated with disease in 1 Turkish and 2 Kurdish ...