Abstract

Key Clinical MessagePrimary hypogonadism combined with Müllerian hypoplasia and partial alopecia are common features of this syndrome, which was reported only in four earlier families from areas where consanguineous marriage is prevalent. An autosomal recessive pattern of inheritance was suggested earlier and is supported by this report.

Highlights

  • The association of hypogonadism with alopecia is rare and has only been reported occasionally

  • Primary hypogonadism combined with Mu€llerian hypoplasia and partial alopecia are common features of this syndrome, which was reported only in four earlier families from areas where consanguineous marriage is prevalent

  • Al-Semari and Bohlega reported, in 2007, 12 families with similar clinical features and suggested neuroendocrine-ectodermal syndrome [11]; this syndrome was associated with diabetes mellitus and progressive extrapyramidal disorders, which were absent in our patients

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Summary

Key Clinical Message

Primary hypogonadism combined with Mu€llerian hypoplasia and partial alopecia are common features of this syndrome, which was reported only in four earlier families from areas where consanguineous marriage is prevalent. An autosomal recessive pattern of inheritance was suggested earlier and is supported by this report.

Introduction
Clinical Report
Discussion
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