Semaglutide as a potential therapeutic alternative for HNF1B-MODY: a case study.

Maturity-onset diabetes of the young (MODY) is a grouping of monogenic disorders. It is characterized by dominantly inherited, non-insulin-dependent diabetes. MODY is relatively rare, encompassing up to 3.

Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.

Homozygous familial hypercholesterolaemia (HoFH) is a severe form of FH in which inheritance of two defective or null mutations in genes associated with metabolism of low-density lipoprotein cholesterol (LDL-C) results in extremely high LDL-C, premature atherosclerotic cardiovascular disease (ASCVD) and mortality. Treatment of HoFH comprises a multi-modal approach of statins, ezetimibe, lipoprotein apheresis; and inhibitors of proprotein convertase subtilisin/kexin type, angiopoietin-like protein 3 (ANGPTL3) and microsomal triglyceride transfer protein. These treatments are generally costly, and patients also often require treatment for ASCVD consequent to HoFH.

Isolated Pancreatic Agenesis Secondary to PTF1A Gene Mutation: A Case Series and Literature Review.

Background Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six months of life. It is often related to genetic mutations; hence, genetic testing is warranted. Here, we present six cases of pancreatic agenesis resulting in neonatal diabetes with gene mutation.

Subclinical Neuropathy in Children With Type I Diabetes Mellitus: Tertiary Care Centre Experience.

Introduction: Diabetic peripheral neuropathy is a common complication of diabetes mellitus (DM) type 1. However, it can occur without evidence of symptoms or clinical signs of neuropathy labeled as subclinical neuropathy, which neurophysiological studies can best detect.

Purpose: To evaluate the prevalence of subclinical neuropathy among children with DM type 1, determine the association with blood sugar control, and evaluate the pattern of nerve involvement in neurophysiological studies.

Puberty Induction in Adolescent Males: Current Practice.

Puberty is a developmental stage characterized by the appearance of secondary sexual characteristics which leads to complete physical, psychosocial, and sexual maturation. The current practice of hormonal therapy to induce puberty in adolescent males is based on published consensus and expert opinion. Evidence-based guidelines on optimal timing and regimen in puberty induction in males are lacking, and this reflects some discrepancies in practice among endocrinologists.

Case Report: Homozygous Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy.

Introduction: DNAJC3, abundant in the pancreatic cells, attenuates endoplasmic reticulum stress. Homozygous mutations have been reported to cause non-immune juvenile-onset diabetes, neurodegeneration, hearing loss, short stature, and hypothyroidism.

Case Description: We report a case of homozygous mutation in two siblings of a consanguineous family.

Prevalence and special clinical and biochemical characteristics of familial type 1 (insulin dependent) diabetes mellitus in pediatric patients in a tertiary care setting.

Background And Objectives: The hereditable nature of type 1 diabetes mellitus (T1DM) makes it a condition that is in some cases shared among siblings. Studies that focus on the epidemiology of T1DM among siblings are scarce. The primary focus of the study is to estimate the prevalence of familial T1DM among siblings and the secondary focus is to identify the presence of any special clinical or biochemical characteristics specific to this entity.

Cord blood versus heel-stick sampling for measuring thyroid stimulating hormone for newborn screening of congenital hypothyroidism.

Background: Screening for congenital hypothyroidism (CH) using cord blood or heel-stick samples is considered essential for the prevention of long-term complications CH, which include intellectual disability and slow growth.

Objective: Compare the sensitivity and specificity of cord blood and heel-stick samples for determining thyroid-stimulating hormone (TSH) levels for the detection of CH.

Design: Comparative diagnostic accuracy.

Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism.

Background: Congenital hyperinsulinism (CHI) is a major cause of persistent hypoglycemia and brain damage. Therapeutic strategies to avoid near total pancreatectomy in patients who are unresponsive to maximum doses of diazoxide and octreotide remain to be identified, although sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used successfully to treat diffuse type CHI.

Case Presentation: We used sirolimus to treat three infants with diffuse CHI.

Diagnosis and management of growth disorders in Gulf Cooperation Council (GCC) countries: Current procedures and key recommendations for best practice.

Diagnosis and management of growth disorders comprises an important area of pediatric practice. Current procedures in the different stages of the identification, referral, investigation, and treatment of growth disorders in the Gulf Cooperation Council (GCC) countries have been summarized. Evidence-based procedures, relating specifically to height screening for identification of short stature, auxological criteria for patient referral from primary to secondary pediatric care, and general and endocrine investigations and diagnosis have been discussed and outlined.

Is type 1 diabetes mellitus a cause for subtle hearing loss in pediatric patients?

The objective of this study is to investigate the effects of IDDM on the function of the auditory pathway from the cochlea to the auditory cortex in child patients. Totally, 140 ears of 70 children with IDDM and 60 ears of 30 age and gender-matched healthy controls were included in the study. The ages of patients and controls ranged from 4 to 14 years.

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

We describe a previously unreported syndrome characterized by secondary (post-natal) microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract in a highly consanguineous family with six affected children. Homozygosity mapping and exome sequencing revealed a novel homozygous frameshift mutation in the basic helix-loop-helix transcription factor gene ARNT2 (c.1373_1374dupTC) in affected individuals.

Pubertal characteristics among schoolgirls in Riyadh, Saudi Arabia.

Puberty is the gradual transition period between childhood and adulthood. Many factors may contribute to the onset of puberty. The objective of the study was to determine the age of onset of secondary pubertal characteristics among Saudi Arabian girls.

Age- and gender-specific reference intervals for serum lipid levels (measured with an Advia 1650 analyzer) in school children.

Background: Due to the lack of country-specific norms in Saudi Arabia, age- and gender-specific lipid reference intervals are needed to be established for Saudi children.

Methods: Blood samples were collected from 1168 children aged 6-16 years: 500 boys (43%) and 668 girls (57%), and were analyzed for cholesterol, high-density lipoprotein (HDL) and low-density lipoprotein (LDL). Reference intervals were established by calculating the mean and the 2.

Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients.

Background: A newborn with ambiguous genitalia needs prompt evaluation to detect life-threatening conditions (e.g., salt-losing crisis in congenital adrenal hyperplasia [CAH]) and gender assignment.

The syndrome of septo-optic dysplasia in Saudi children.

Objective: To describe the clinical, ophthalmological, endocrinological and radiological features of 10 Saudi children with the syndrome of septo-optic dysplasia and hypothalamic hypopituitarism.

Methods: All patients underwent complete ophthalmological and endocrinological evaluation at the Pediatric Endocrine Clinics, King Faisal Specialist Hospital and Research Center and King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia, from October 1999 through to May 2004. The hormonal evaluation included growth hormone, adrenocorticotrophic hormone, thyroid stimulating hormone, gonadotropin and anti diuretic hormone testing, and the neuroradiological assessment included brain magnetic resonance imaging or computed tomogram scanning, or both.