Endocrinological Manifestations of Sanjad-Sakati Syndrome.

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

doi:10.7759/cureus.8770

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.

Highlights

BackgroundFirst reported in Saudi Arabia by Sanjad et al in 1988 [1], Sanjad-Sakati syndrome (SSS), known as Richardson-Kirk syndrome, has been listed in Online Mendelian Inheritance of Men (OMIM) no. 241410 as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome
This study aims to explore other endocrinological manifestations that may be seen in this condition as reported in the past, such as hypothyroidism and growth hormone deficiencies
A combination of defects affecting growth hormone (GH), insulin-like growth factor 1 levels (IGF-1) and thyroid hormone secretion coupled with malnutrition caused due to recurrent infections and growth plate defects, may all play the role in the development of short stature in these patients and perhaps, may impede the brain development for which normal thyroid function is so necessary especially during the first year of life [13]

Summary

Introduction

First reported in Saudi Arabia by Sanjad et al in 1988 [1], Sanjad-Sakati syndrome (SSS), known as Richardson-Kirk syndrome, has been listed in Online Mendelian Inheritance of Men (OMIM) no. 241410 as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome. A combination of defects affecting GH, IGF-1 and thyroid hormone secretion coupled with malnutrition caused due to recurrent infections and growth plate defects, may all play the role in the development of short stature in these patients and perhaps, may impede the brain development for which normal thyroid function is so necessary especially during the first year of life [13]. Since hypoparathyroidism is an almost universal complaint in such patients, the primary management includes treating that defect If such patient presents with symptoms of acute hypocalcemia, the treatment involves intravenous (IV) bolus of 9-15 mg elemental calcium/kg (1 g calcium gluconate = 90 mg elemental calcium), administered over 10-30 mins [19]. SSS is a chronic, progressive disease, for which palliation is the mainstay for management, but recurrent infections limit the lifespan of most patients to below 18 years of age [10]

Conclusions

Disclosures

El Batawi HY