Endocrine Abstracts

17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with gonads (testes) intact. Their bodies, however, do not produce enough testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the male phenotype of external genitalia before birth.Case report: 12 years old, re...

Peripheral precocious puberty (PPP) in males is a rare condition characterized by the premature activation of the hypothalamic–pituitary–gonadal axis, resulting in the early onset of secondary sexual characteristics. We present the case of a one-year-old boy from Pakistan who exhibited PPP along with a left hip region mass.The patient’s initial workup revealed remarkably elevated levels of beta-human chorionic gonadotropin (Bhcg) and serum alphafetoprotein (AFP), indicating po...

Introduction: 46XY gonadal dysgenesis is one of the important cause of DSD with varied clinical presentation Genetic mutations like SRY, NR5A1, SOX9, DHX37 are common mutations that can cause gonadal dysgenesis. Genetic testing for reaching final diagnosis in 46 XY DSD is increasingly playing a crucial role in the management plan.Case: A 10-month-old patient presented in our DSD clinic with complaint of atypical genitali...

We report a Pakistani family of three adults and five children affected with same disorder. An 8-year-old boy referred to us for the management of osteogenesis imperfecta according to mother he was not gaining height, increasing head size, and bowing of legs since the age of 2 years. He had dental caries and brittle teeth. Two of his maternal uncles and one maternal aunt were suffering from the same disease; their children also showed similar complaints. A paternal uncle and a...

The triad of hypertriglyceridemia-induced acute pancreatitis with concurrent diabetic ketoacidosis (DKA) is rare in previously undiagnosed diabetic patients. Drug-induced diabetesis one of the main adverse effects of Risperidone, a second generation (atypical) class of antipsychotic used in the treatment of schizophrenia and bipolar disorder, however, Risperidone-induced diabetic ketoacidosis is rare. We are reporting a case of diabetic ketoacidosis associated with hypertrigly...

Background: Hypocalcaemia post parathyroidectomy and thyroidectomy is common and usually transient. A variety of drugs including tyrosine kinase inhibitors can cause hypocalcaemia. We present a case where a patient with primary hyperparathyroidism on imatinib with pre-op calcium 2.86 mmol/l, post-operatively developed resistant hypocalcaemia necessitating prolong hospitalisation and multiple calcium infusions which was not solely attributable to hungry bone syndrome.<p cla...

Purpose: The use of anabolic androgenic steroids (AAS) to improve fitness and increase muscle mass is widespread among athletes. Information regarding self-administered AAS used to enhance athletic performance or improve physical appearance is sparse and poorly documented in Saudi Arabia. The purpose of this study is to investigate the prevalence and motivation of AAS use and knowledge of its adverse effects among fitness centres visitors in Eastern Province, Saudi Arabia....

A 60-year-old woman was referred with a 14 mm right adrenal mass on a contrast CT abdomen whilst being investigated for left iliac fossa pain and increased bowel frequency. She reported a 2-year history of anxiety attacks, poor sleep, excessive sweating and weight loss. She had hypertension, asthma and recurrent vasovagal syncope and had previously undergone an open cholecystectomy. Her medications included Lansoprazole, Salbutamol, Losartan, Citalopram and Diltiazem. Systemic...

We report two cases of hypernatraemia with reset osmostat and pituitary dysfunction.A 35-year-old male was referred with Graves’ thyrotoxicosis associated with hypokalaemic periodic paralysis and an incidental serum sodium 154 mmol/l. He complained of polyuria and nocturia but denied excessive thirst and was otherwise well. Height was 193 cm with BMI 29.5. He had gynaecomastia and sparse body hair. He had a small 6 ml right testicle (originally und...

A 29 year old gentleman presented to Urology with scrotal pain. He had renal calculi but examination also revealed small testicles for which he was referred to Endocrinology. He achieved normal developmental milestones. He had no history of mumps or testicular torsion or surgery. He had no history of hypospadias or undescended testicles. He was not on any regular medication and denied anabolic steroids use. He reported a normal sense of smell. His body weight was 72 Kg with he...