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Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.
ORPHA:2230Classification level: Disorder
- Salti-Salem syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Childhood
- ICD-10: E23.0
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: 324
- MedDRA: -
It has been described in six members (four males and two females) of a consanguineous Lebanese family.
In addition to frontoparietal alopecia, the remaining scalp hair was also sparse, and axillary and pubic hair was absent.
In contrast to the syndrome of primary hypergonadotropic hypogonadism and partial alopecia (see this term), streak or absent ovaries, hypoplastic uterus, and microcephaly were not reported in the affected female members of this Lebanese family.
Despite the family history of consanguinity, autosomal dominant inheritance with reduced penetrance was considered as the most likely mode of transmission.
- Review article
- Français (2009, pdf)