What is it about?
Primary amenorrhoea, partial baldness, learning difficulties and short stature.
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Why is it important?
This is the fifth report of this rare syndrome in the world
Perspectives
Finding odd features in many family members made us analyze the findings and search literatures to explain the presented signs and symptoms. An autosomal recessive pattern is highly suggested for this syndrome as it was reported earlier in areas where consanguinity is prevalent. Molecular diagnosis of causative gene mutations should confirm this suggestion and explain on molecular level the function(s) of the mutated gene.
Prof. Bassam Musa Al-Musawi
College of Medicine, University of Baghdad
Read the Original
This page is a summary of: Primary hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a fifth family and review, Clinical Case Reports, August 2017, Wiley,
DOI: 10.1002/ccr3.1128.
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