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...

Introduction: Growth is considered as an important concern in patients with congenital adrenal hyperplasia (CAH). It is a group of recessive autosomal disorder which may develop due to genes mutation. In childhood, congenital adrenal hyperplasia (CAH) is considered as the most common inherited adrenal disorder. CAH can negatively affect the synthesis pathway of cortisol which leads to decrease cortisol level and a rise in the production of adrenocorticotrophic hormone. A high ...

A rare skeletal dysplasia-Progressive Pseudorheumatoid dysplasia—close mimicker of juvenile idiopathic arthritisIntroduction: Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare autosomal recessive arthropathy of childhood involving the entire skeleton. Here we report first genetically proven case of PPRD from the country. Often mistaken as juvenile rheumatoid arthritis,...

Background and Purpose: AHC (X-linked adrenal hypoplasia congenita) is a rare cause of adrenal insufficiency due to mutations in NROB1 gene. It traditionally causes hypogonadotropic hypogonadism. Rare cases of central precocious puberty due to NROB1 mutation has been reported so far. We present two interesting cases of NROB1 mutation from a same family with different presentations. This is first case report of NROB1 mutation from Pakistan. Case Report: I...

Background: Steroid cell tumour of ovaries comes under sex cord stromal tumour that accounts less than 0.1% of all ovarian tumour. Majority are benign in childhood age group. It may produce steroids and testosterone resulting in virilisation and Cushing’s syndrome. Histology remains the gold standard for diagnosis of NOS. The gross appearance of NOS generally is well circumscribed, solid and noncalcifed with a lobulated appearance Till date only 10 cases has been reported...

Ectopic ACTH is rare and represents about 10% of causes of Cushing’s syndrome. Associated tumours are neuroendocrine in origin and include small cell lung cancer, carcinoid tumours, and medullary carcinoma of the thyroid. In this report, we describe a rare case of ectopic ACTH due to a primary pulmonary carcinoid tumour.A 29 years old male was diagnosed with hypertension 18 months prior to presentation. On ex...

Ectopic ACTH is rare and represents about 10% of causes of Cushing’s syndrome. Associated tumours are neuroendocrine in origin and include small cell lung cancer, carcinoid tumours, and medullary carcinoma of the thyroid. In this report, we describe a rare case of ectopic ACTH due to a primary pulmonary carcinoid tumour.A 29 years old male was diagnosed with hypertension 18 months prior to presentation. On ex...

Cardiovascular dysfunction (CVD) is a well recognized complication in patients with hyperthyroidism and is the major cause of mortality. To date there has been no studies which had clearly evaluated the CVD and its recovery pattern between patients with Graves and Toxic multi nodular goitre(TMNG). Hence we intended to compare treatment outcomes in patients with Graves and TMNG. Patients with hyperthyroidism were grouped into, Group 1 [n=133, age<6...

A 24 year old female presented to her general practitioner with general malaise. She had a genetic diagnosis of hereditary non-polyposis colorectal cancer (Lynch syndrome), with no colonic lesions detected on screening. Routine biochemistry revealed a potassium of 2.1mmol/l, requiring admission for urgent investigation and intravenous replacement. Further clinical assessment found a past history of severe acute thoracic back pain (3-months prior to presentation), weight gain a...

Section 1: Case history: 23 Year old Caribbean gentleman attended A&E with several month history of non-specific headaches, changes in memory/mood and joint pains. Since the age of 5 he had been medically treated for renal stones, He had a past medical history of sickle cell trait and was not on any regular medications. There was no significant family history apart from sickle cell disease. He had initial bloods which showed serum adjusted calcium level 3.7 mmol/l and PTH ...