HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH15
Number of Symptoms 17
OrphanetNr:
OMIM Id: 614880
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism 347 / 7739
2
(HPO:0008734) Decreased testicular size 105 / 7739
3
(HPO:0000786) Primary amenorrhea 61 / 7739
4
(HPO:0000054) Micropenis 257 / 7739
5
(HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
6
(HPO:0012506) Small pituitary gland rare [HPO:skoehler] 2 / 7739
7
(OMIM) Osteopenia or osteoporosis (in some patients) 2 / 7739
8
(OMIM) Delayed or absent thelarche 5 / 7739
9
(OMIM) Genu valgus, bilateral (in some patients) 1 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Low serum testosterone in males 2 / 7739
12
(OMIM) Hyposmia/anosmia 7 / 7739
13
(OMIM) Normal pituitary function 1 / 7739
14
(OMIM) Low to normal serum gonadotropins 1 / 7739
15
(OMIM) Lack of LH pulsatility 1 / 7739
16
(OMIM) Absent or delayed puberty 11 / 7739
17
(OMIM) Low serum estradiol in females 2 / 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 Tornberg et al. (2011) sequenced the coding exons and flanking splice sites of the candidate gene HS6ST1 (604846) in genomic DNA from 338 GnRH (GNRH1; 152760)-deficient patients, 271 males and 67 females, including 105 familial cases. They identified ...