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

Source: PubMed Central Open Access, NCBI / U.S. National Library of Medicine

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.