A5061969045- Pituitary Gland Disorders and Treatments
- Glioma Diagnosis and Treatment
- Adrenal and Paraganglionic Tumors
- Electrolyte and hormonal disorders
- Vitamin D Research Studies
- Medical Imaging and Pathology Studies
- Pancreatic function and diabetes
- Myasthenia Gravis and Thymoma
- Sexual Differentiation and Disorders
- Pharmacological Effects and Toxicity Studies
- Protein Degradation and Inhibitors
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Sperm and Testicular Function
- Adrenal Hormones and Disorders
- Reproductive Biology and Fertility
- Congenital Diaphragmatic Hernia Studies
- Congenital heart defects research
- Hereditary Neurological Disorders
- Ovarian function and disorders
- Parathyroid Disorders and Treatments
- Diabetes Management and Research
- Bone health and treatments
- Neurogenetic and Muscular Disorders Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Thyroid and Parathyroid Surgery
Aga Khan University Hospital
2024-2025
Aga Khan University
2022-2023
Vitamin D is commonly recommended for daily intake as dietary sources are often insufficient. However, prolonged high-dose use can lead to serious complications. We present a rare case of 2-month-old infant who developed severe hypercalcemia and hypertriglyceridemia due an accidental overdose 25-OH vitamin D, leading pancreatitis. The management challenges encountered while managing this were the need high glucose infusion rate fluids with insulin hypertriglyceridemia, electrolyte imbalances...
Graves’ disease (GD) is an autoimmune disorder that manifests as goiter, weight loss, heat intolerance, and palpitations. It rare in preschool-aged children (<5 years) can lead to serious acute long-term complications, including growth development, if left undiagnosed. We present the case of a four-year-old Hindu Asian girl from low socioeconomic background who presented with progressive thyroid enlargement symptoms excessive sweating, diarrhea, fatigue, palpitations over six months....
Turner syndrome (TS) affects approximately 1 in 2500 female live births globally, making it the most common sex chromosomal abnormality females. It results from a partially or completely missing X chromosome, often occurring mosaic karyotypes. TS is associated with various health issues, including short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital heart defects, endocrine disorders and autoimmune disorders. less prevalent among twins....
Neonatal diabetes is a rare disease with incidence estimated at 1 in 300,000 to 400,000 live births. Walcott-Rallison syndrome has been identified as the most common cause of permanent neonatal consanguineous families caused by mutations eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3), characterized associated liver dysfunction, multiple epiphyseal dysplasia, and developmental delay. We herein report cases genetically proven Wolcott-Rallison variable phenotype...
<h3>Background</h3> Neonatal diabetes (NDM) is a rare condition and presents within the first 6 months of life (1 in 90,000-160,000 births). Traditionally treated with lifelong insulin, recent genetic findings point to oral sulfonylurea responsive mutations KCNJ11 ABCC8 genes, offering improved glycemic control quality life. <h3>Case Report(s)</h3> This case series five infants from The Aga Khan University Hospital Karachi NDM varying clinical manifestations. Four them experienced severe DKA...
Fahr’s syndrome is a rare neurodegenerative disease characterised by symmetric calcifications in basal ganglia, cerebellum and cerebral cortex, secondary to genetic, infectious autoimmune aetiologies. It has wide range of clinical presentations including neurological psychiatric symptoms leading cognitive impairment behavioural changes. In this case report, an adolescent boy with unique sequence different manifestations APS-1 described who eventually developed hypoparathyroidism. The child...
Background: Hypocalcemia is a significant metabolic disturbance in infants and recognized cause of seizures. The condition often arises from vitamin D deficiency, hypoparathyroidism, or critical illnesses, disrupting calcium homeostasis. Understanding the clinical biochemical contributors to hypocalcemia-related seizures essential for timely diagnosis management prevent long-term neurological complications. Objective: This study aimed evaluate characteristics, parameters, associated factors...
Abstract Introduction : Craniopharyngioma constitutes approximately 10% of primary brain tumors in children. It can cause considerable morbidity and mortality due to the local aggressiveness tumor itself or its management affecting hypothalamus-pituitary axis optic pathway involvement. There is very scarce data available from LMIC which makes controversial where multidisciplinary teams are already not most centers. This a single-center cross-sectional retrospective review 20 years record 49...