Hereditary Endocrine Genetic Disorders

Hereditary endocrine disorders constitute a significant portion of endocrine diseases, with most having well-characterized genetic defects and defined molecular mechanisms. These conditions typically follow classical Mendelian inheritance, predominantly in an autosomal recessive pattern, and are often the result of single point mutations.

In Saudi Arabia, the prevalence of hereditary diseases is high due to population genetics and consanguinity, and endocrine disorders are no exception. Despite this, cases remain scattered across multiple healthcare centers, and comprehensive national studies are limited. Existing research primarily consists of isolated case reports or investigations involving small family groups.

At King Faisal Specialist Hospital and Research Center, a leading tertiary referral institution, both adult and pediatric endocrine clinics frequently encounter patients and families with confirmed genetic endocrine disorders. This proposal aims to prospectively conduct genetic mutation screening for selected hereditary endocrine conditions, including congenital hypopituitarism, thyroid hormone resistance, familial thyrotoxicosis, TSH receptor defects, polyglandular autoimmune syndromes, monogenic diabetes, congenital adrenal hyperplasia, disorders of sex development, vitamin D and parathyroid hormone resistance syndromes, cortisol and aldosterone resistance syndromes, and renal tubular disorders. The methodology will involve nucleic acid (DNA and RNA) extraction followed by whole-exome, whole-genome, and direct sequencing, integrated with advanced bioinformatics and AI analysis to identify and characterize known or novel mutations, providing a foundation for biomarker discovery and future drug development.