Publications by authors named "Ohoud Alzahrani"
Objective: Whether hypoglycaemia incidentally detected during intercurrent illness in children requires an endocrine workup remains controversial. This study aimed to determine the yield of conducting a diagnostic evaluation in this setting and to compare clinical and biochemical features between patients ultimately diagnosed with a hypoglycaemic disorder and those who were not.
Design: Single-center, retrospective review of children referred to endocrinology between January 2013 and December 2018 for evaluation of hypoglycaemia (defined as plasma glucose<3.
Objective: To describe perinatal stress induced hyperinsulinism (PSIHI), determine the prevalence of neurodevelopmental differences, and identify risk factors for poor developmental prognosis.
Methods: Subjects with a history of hyperinsulinism (HI) and perinatal stress and in whom resolution of the HI was demonstrated were included. Medical record review, caregiver interview, and three validated developmental assessments were completed.
Molecular genetics of disorders of sex development in a highly consanguineous population.
J Steroid Biochem Mol Biol
April 2021
Unlabelled: Consanguinity increases the risk of hereditary diseases including disorders of sex development (DSD). There are minimal data on DSD in the highly consanguineous population of Saudi Arabia. This study reports the molecular genetics of a series of patients with different types of DSD.
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- - The study examines 24 individuals with 5-α reductase deficiency, a genetic condition affecting sexual development, focusing on their clinical and genetic features in a Saudi Arabian population.
- - Results showed a variety of genital appearances, with many assigned female gender at birth due to severe under virilization, highlighting the condition's phenotypic variability.
- - Genetic analysis revealed multiple mutations, including a common splice site mutation, suggesting its potential role as a founder mutation in this region, while demonstrating a weak connection between specific mutations and clinical outcomes.
A high rate of novel CYP11B1 mutations in Saudi Arabia.
J Steroid Biochem Mol Biol
November 2017
Despite ethnic variation, 11 β-hydroxylase deficiency (11β-OHD) has generally been considered the second most common subtype of congenital adrenal hyperplasia (CAH). We report a high rate of novel mutations in this gene (CYP11B1) in patients from Saudi Arabia. We studied 16 patients with 11β-OHD from 8 unrelated families.
View Article and Find Full Text PDFContext: Apart from 21 Hydroxylase deficiency, other subtypes of congenital adrenal hyperplasia (CAH) are rare. We studied the clinical features and molecular genetics of a relatively large series of patients with CYP17A1, HSD3β2 and StAR deficiencies.
Patients And Methods: We studied 21 patients including 7 patients with CYP17A1, 10 patients with HSD3β2 and 4 patients with StAR deficiencies.