Endocrine Abstracts

27-year-old male presented to the outpatient adult Endocrine team with Classical Salt wasting CAH due to 21 -Hydroxylase Deficiency. He has 659 A/C G splice mutation. There was no prior family history of CAH. The diagnosis was made at birth and he was commenced on hydrocortisone and Fludrocortisone. Further confirmatory tests were done at the age of one month. He was regularly followed up in the pediatric endocrine clinic. There have always been issues with compliance. He had ...

Insulinomas, uncommon neuroendocrine tumours, may produce insulin-induced hypoglycemia. It causes neuroglycopenia and autonomic sympathetic dysfunction. Glucose immediately relieves these sensations. Hypoglycemia without plasma sulfonylurea and increased C-peptide is diagnostic. The tumour must be found before surgery.Introduction: Hypoglycemia is caused by insulinomas. Insulinoma, the most frequent functional pancreatic tumour, occurs just four times pe...

A 32-year-old female was referred with abnormal thyroid function tests after investigation for nonspecific joint symptoms and exhaustion in 2010. Initial biochemistry showed TSH 0.03 mU/l(0.2-5), Free T4 75 pmol/l(9-24). At her endocrine appointment she reported loose stools, tremors, exertional dyspnea and a peculiar sensation in neck in keeping with thyrotoxicosis. Since puberty, she had problems acquiring weight. Repeat thyroid function demonstrated TSH <0.01 mU/land Fr...

Introduction: Pseudo-hypoparathyroidism (PHP) is a rare endocrine disorder characterized by resistance to parathyroid hormone (PTH). We present a case of a 33-year-old, focusing on the clinical presentation, diagnostic, and management strategies, with particular attention to skeletal manifestations and tissue calcifications.Case Description: The patient presented to the hospital with severe symptomatic hypocalcaemia. Ini...

70yrs male was referred to endocrinology due to an abnormal blood test showing hypogonadotropic hypogonadism. Initial investigations were done due to bilateral gynecomastia worsening over 20 years, by the breast team. He did not go through puberty as a child and was given a testosterone injection at the age of 12yrs for a year. This was discontinued due to sexual arousal since then he did not have any further endocrine follow-ups. He had symptoms of tiredness, reduce libido, a...

Background: Down Syndrome (DS) is the commonest form of chromosomal trisomy. Genetic factors in DS may increase the risk for diabetes. Obesity and type 2 diabetes mellitus (T2DM) rates have increased in the general populationbut it is not known whether this similarly affected people with DS.Objective: To determine whether DS is associated with increased incidence of diabetes and the relationship with obesity across the lifespan compared to controls.<...

Introduction: Pathogenic MC4R variants result in hyperphagia and early onset obesity but puberty is not usually affected. We describe an MC4R variant in a patient with Kallmann syndrome and obesity.Case: A 16 year old male with repaired Tetralogy of Fallot, anosmia, autism and anxiety, was referred with obesity and delayed puberty. Height was -1.31 SDS, BMI 30.7 kg/m2. He had a high arched palate, normal skin, normal hai...

Background: Thyroid hormones are essential for the adequate growth and development of the kidney and also target changes in glomerular and tubular functions and electrolyte and water homeostasis. Hyperthyroidism leads to an increase in glomerular filtration rate (GFR) and renal blood flow with converse effects seen in hypothyroidism. In turn, the kidneys are responsible for the metabolism and elimination of thyroid hormones and thus renal disease can lead to s...

Introduction: Pathogenic MC4R gene variants result in hyperphagia and early onset obesity, but puberty is not usually affected. We recently assessed spontaneous LH and FSH pulsatility, response to LHRH and kisspeptin in a previously presented male with anosmia, delayed puberty (Tanner stage A2P1G1, 5ml testes) and obesity (BMI 30.7 kg/m2) and a MC4R variant.Results: GnRH test showed borderline low peaks (LH 5.0 U/l, FSH 2.6 U...