Isolated follicle stimulating hormone deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Isolated FSH deficiency
Number of Symptoms 9
OrphanetNr: 52901
OMIM Id: 229070
ICD-10: E23.6
UMLs: C1856716
MeSH: C537070
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Non-acquired premature ovarian failure
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
Nonacquired pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000786) Primary amenorrhea 61 / 7739
2
 (HPO:0008734) Decreased testicular size 105 / 7739
3
 (HPO:0000789) Infertility 74 / 7739
4
 (HPO:0011969) Elevated luteinizing hormone 6 / 7739
5
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
6
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
7
 (HPO:0003199) Decreased muscle mass rare [HPO:skoehler] 27 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (MedDRA:10071084) Follicle-stimulating hormone deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rabin et al. (1972) described a 22-year-old woman with primary amenorrhea, high LH, undetectable serum FSH, and, on biopsy of the ovaries, primordial follicles which had not matured to the stage of antral formation. The defect was thought ...
Molecular genetics OMIM In an Italian woman with primary amenorrhea and infertility associated with isolated deficiency of pituitary FSH and normal luteinizing hormone secretion, Matthews et al. (1993) identified homozygosity for a 2-bp frameshift deletion in the coding sequence of the ...