Normosmic congenital hypogonadotropic hypogonadism
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Isolated congenital gonadotropin deficiency Gonadotropic deficiency nIHH normosmic idiopathic hypogonadotropic hypogonadism |
| Number of Symptoms | 10 |
| OrphanetNr: | 432 |
| OMIM Id: |
146110
147950 228300 244200 308700 610628 612370 612702 614837 614838 614839 614840 614841 614842 614858 614880 615266 615269 615270 |
| ICD-10: |
E23.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive Multifactorial X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Isolated congenital hypogonadotropic hypogonadism
-Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease |
Symptom Information:
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(HPO:0008734) | Decreased testicular size | 105 / 7739 | ||||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000044) | Hypogonadotrophic hypogonadism | 56 / 7739 | ||||
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(HPO:0000054) | Micropenis | 257 / 7739 | ||||
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(HPO:0000789) | Infertility | rare [HPO:skoehler] | 74 / 7739 | |||
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(HPO:0000786) | Primary amenorrhea | 61 / 7739 | ||||
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(HPO:0000771) | Gynecomastia | 53 / 7739 | ||||
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(HPO:0002225) | Sparse pubic hair | 76 / 7739 | ||||
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(HPO:0002215) | Sparse axillary hair | 21 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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