Rare Endocrine Disorders in Children of Consanguineous Parents: A Case Series.

Authors

Haya Khaled Ali Abdulla AlKhalifa, Fatima AlQanea, J Flood

Published in

Cureus. Volume 18. Issue 7. Pages e112733. Epub Jul 15, 2026.

Abstract

This case series explores the genetic and clinical consequences of consanguineous marriage in Bahrain. Two pediatric patients born to first-cousin parents were identified and evaluated at tertiary hospitals. Each underwent detailed clinical assessment, imaging, and genetic testing. The first case involved Müllerian duct agenesis, adrenal insufficiency, and primary ovarian failure without a pathogenic variant. The second case featured growth failure and hypopituitarism linked to a heterozygous nonsense mutation in the Sonic Hedgehog (SHH) gene (7q36.3). These findings highlight the broad phenotypic spectrum of genetic disorders arising from consanguinity and highlight the need for genetic counseling, early screening, and public awareness initiatives in populations with high rates of consanguineous unions.

PMID:
42603055
Bibliographic data and abstract were imported from PubMed on 15 Aug 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.