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).

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.

Higher serum alkaline phosphatase activity in infants born to vitamin D-deficient mothers.

Unlabelled: Our research shows that the newborns of vitamin D-deficient mothers have higher serum alkaline phosphatase (ALP) activity compared with those of vitamin D-non-deficient mothers, which is likely related to increased bone turnover rather than just being a marker for bone formation. This has a potential negative impact on fetal bone development and subsequent skeletal growth.

Purpose/introduction: Low maternal serum 25-hydroxy vitamin D (25(OH)D) level during pregnancy contributes to vitamin D deficiency in infants at birth, which is associated with multiple potential adverse effects on fetal skeletal mineralization and growth.

Clinical characteristics and phenotype-genotype review of 25 Omani children with congenital hyperinsulinism in infancy. A one-decade single-center experience.

To report the genotype-phenotype characteristics, demographic features and clinical outcome of Omani patients with congenital hyperinsulinism (CHI). Methods: We retrospectively analyzed the clinical, biochemical, genotypical, phenotypical characteristics and outcomes of  children with CHI who were presented to the pediatric endocrine team in the Royal Hospital, Muscat, Oman between January 2007 and December 2016. Results: Analysis of 25 patients with CHI genetically revealed homozygous mutation in ABCC8 in 23 (92%) patients and 2 patients (8%) with compound heterozygous mutation in ABCC8.

Testosterone- and Cortisol-secreting Oncocytic Adrenocortical Adenoma in the Pediatric Age-group.

Oncocytic tumors are epithelial neoplasms that occur in various organs, including adrenal glands. Oncocytic adrenocortical adenomas and carcinomas are uncommon but well-known pathological entities in adults. However, generally oncocytic tumors, particularly in the adrenal glands, are very rare in the pediatric age-group.

Genetic mutations associated with neonatal diabetes mellitus in Omani patients.

Background: Neonatal diabetes mellitus (NDM) is a rare disorder worldwide where diabetes is diagnosed in the first 6 months of life. However, Oman has a relatively high incidence of NDM.

Methods: In this study, we investigated the genetic etiologies underlying NDM and their prevalence in Oman.

Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.

Mutations in 11β-hydroxysteroid dehydrogenase type 2 gene () cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid excess (AME). AME is a form of low renin hypertension that is potentially fatal if untreated. Mutations in the gene result either in severe AME or a milder phenotype (type 2 AME).

A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred.

Apparent mineralocorticoid excess (AME) is a rare autosomal recessive genetic disorder causing severe hypertension in childhood due to a deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2), which is encoded by HSD11B2. Without treatment, chronic hypertension leads to early development of end-organ damage. Approximately 40 causative mutations in HSD11B2 have been identified in ∼100 AME patients worldwide.