HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH16
Number of Symptoms 15
OrphanetNr:
OMIM Id: 614897
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:0000027) Azoospermia 28 / 7739
2
(HPO:0008734) Decreased testicular size 105 / 7739
3
(HPO:0000028) Cryptorchidism 347 / 7739
4
(HPO:0000786) Primary amenorrhea 61 / 7739
5
(HPO:0000054) Micropenis 257 / 7739
6
(HPO:0000458) Anosmia 49 / 7739
7
(OMIM) Low to normal serum LH Low to normal serum FSH 1 / 7739
8
(OMIM) Delayed or absent thelarche 5 / 7739
9
(OMIM) Patients have normal pituitary function 4 / 7739
10
(OMIM) Low serum testosterone in males 2 / 7739
11
(OMIM) Absent or delayed puberty 11 / 7739
12
(HPO:0003812) Phenotypic variability 129 / 7739
13
(OMIM) Hyposmia/anosmia 7 / 7739
14
(OMIM) Low serum estradiol in females 2 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 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 ...
Clinical Description OMIM Young et al. (2012) studied a family segregating autosomal dominant anosmic hypogonadotropic hypogonadism. The proband presented at 17 years of age because of pubertal failure, and was found to have features of complete hypogonadism, with mean testicular volume ...
Molecular genetics OMIM Using whole-genome microarray analysis in 48 probands with anosmic hypogonadotropic hypogonadism who did not have mutations in known Kallmann syndrome-associated genes and who had no chromosomal abnormalities on standard karyotyping, Young et al. (2012) identified 1 proband with ...