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
Summary
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.
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