A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.

Context: Pseudohypoaldosteronism (PHA) is a condition in which serum aldosterone level is normal or elevated but its action is deficient.

Objective: This study describes the molecular genetics of PHA 1b in the highly consanguineous population of 2 Arabian Gulf countries, Saudi Arabia and Oman.

Methods: This study enrolled 22 patients from 13 unrelated families (2 families with 5 patients from Oman and 11 families with 17 patients from Saudi Arabia).

Use of ambulatory glucose monitoring and analysis of ambulatory glucose profile in clinical practice for diabetes management; a position statement of the Arab Society of Paediatric Endocrinology and diabetes.

Background And Aim: Diabetes mellitus imposes a significant burden around the world generally and in the Middle East and North Africa specifically. Glucose monitoring is a cornerstone of diabetes management.

Methods: Glycated haemoglobin has always been the main metric for assessing glycaemic control, but its use is linked with multiple pitfalls.

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia.

Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised.  Affected patients can present with severe symptoms of hypomagnesaemia, such as seizures or cardiac arrhythmia.  We report an affected child, from a consanguineous family, who presented in the first weeks of life with seizures secondary to hypomagnesaemia, without other associated clinical features.

Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel mutation.

Mutations in lipopolysaccharide-responsive vesicle trafficking, beach and anchor-containing protein (LRBA) cause immune deficiency and inflammation. Here, we are reporting a novel homozygous mutation in allele in 7-year-old Omani boy, born to consanguineous parents. He presented with type 1 diabetes, autoimmune haematological cytopenia, recurrent chest infections and lymphocytic interstitial lung disease.

A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature.

This is the first case report in Oman and the Gulf region of a 17-β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency with a novel mutation in the HSD17B3 gene that has not been previously described in the medical literature. An Omani child was diagnosed with 17-β-HSD3 deficiency and was followed up for 11 years at the Pediatric Endocrinology Clinic, Royal Hospital, Oman. He presented at the age of six weeks with ambiguous genitalia, stretched penile and bilateral undescended testes.

A novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia.

Leprechaunism is a rare autosomal recessive disorder which is usually fatal in early infancy or childhood. There is a paucity of genetic data on leprechaunism in the Arab population. A 4-month-old boy presented with jaundice, asymptomatic hypoglycaemia and growth retardation with features of leprechaunism.