Objectives: To estimate age at menarche and to assess trends in menarcheal age among
Saudi women. Methods: A prospective longitudinal study was conducted among healthy …

Background Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism,
caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the …

Neonatal diabetes (ND) is a rare subtype of diabetes occurring in the first 6 months of life.
High incidence has been reported among populations with high rates of consanguineous …

Objectives Primary adrenal insufficiency (PAI) in children is an uncommon condition. Congenital
adrenal hyperplasia (CAH) is the commonest cause followed by autoimmune disorders. …

Neonatal hyperparathyroidism is a rare disease caused by a homozygous inactivating
mutation in the calcium sensing receptor gene. It presents early in life with life threatening …

Introduction: literature on Hashimotos thyroiditis, the common thyroid illness in the young
populations, in Sudan and Africa is scarce. We aimed to study its clinical profile and outcome …

Background Wilms’ tumor gene (WT1) encodes a transcription factor that has a role in kidney
development and malignancy. WT1 is shown to be overexpressed in most adult acute …

There is paucity of reported information regarding aetiology and clinical profile of
hypopituitarism from resource-limited countries particularly in populations with high rates of …

Background An adrenocortical tumor is a rare tumor in pediatrics, which can be functional or
nonfunctional. Functional tumors present with virilization, feminization, or hypercortisolism. …

Pathogenic variants within the gene encoding the pituitary-specific transcription factor, POU
class 1 homeobox 1 (POU1F1), are associated with combined pituitary hormone deficiency (…