Endocrinological Manifestations of Sanjad-Sakati Syndrome

Masharib Bashar; Muhammad Taimur; Fnu Amreek; Khalid A Sayeed; Amber Tahir

doi:10.7759/cureus.8770

Endocrinological Manifestations of Sanjad-Sakati Syndrome

Cureus. 2020 Jun 22;12(6):e8770. doi: 10.7759/cureus.8770.

Authors

Masharib Bashar¹, Muhammad Taimur², Fnu Amreek³, Khalid A Sayeed⁴, Amber Tahir²

Affiliations

¹ Internal Medicine, Dr. Ruth KM Pfau Civil Hospital, Karachi, PAK.
² Internal Medicine, Dow University of Health Sciences, Karachi, PAK.
³ Surgery, New York University School of Medicine, New York, USA.
⁴ Internal Medicine, Liaquat College of Medicine and Dentistry, Darul Sehat Hospital, Karachi, PAK.

Abstract

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is a very rare genetic disorder with an autosomal recessive mode of inheritance, mostly seen in children of Middle Eastern origin. Hypoparathyroidism remains the most characteristic endocrinological feature of SSS; but not the only one. This review outlines and elucidates other endocrinological manifestations that may be seen with this syndrome.

Keywords: autosomal recessive; endocrinology; hypoparathyroidism; hypoparathyroidism-retardation-dysmorphism syndrome; pediatric rare diseases; sanjad-sakati syndrome.

Publication types

Review