Endocrine Abstracts

A 48 year old man was reviewed in the late endocrine effect of childhood cancer treatment clinic. He was diagnosed with Acute Lymphoblastic Leukemia back in 1983, at the age of 9 and underwent chemotherapy with UKALL X regime, craniospinal irradiation, followed by total body irradiation and autologous bone marrow transplant the same year. Subsequently he was found to be growth hormone deficient 2 years later and by the age of 21 he developed hypopituitarism. In 2001, by the ag...

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders characterised by enzyme defects in the steroidogenic pathways involved in the biosynthesis of cortisol, aldosterone and androgens. 21-hydroxylase deficiency accounts for more than 90% of cases.Case history: 41-yr-old female was referred to Endocrinology with a serum testosterone of 14.3 nmol/l (0.20–2.86). She was a full term baby born to non...

Prader–Willi syndrome (PWS) is a genetic syndrome caused by a disorder of chromosome 15 (q11–13) are deleted or unexpressed on the paternal chromosome. It affects both sexes equally.Characteristics of PWS include hypotonia, hyperphagia with excessive weight gain, short stature delayed puberty and hypogonadism. Individuals with PWS are at risk of learning and attention difficulties.Most adults with PWS have deficiencies of...

A 56-year-old woman presented with an acute onset of left sided ptosis, diplopia and failure of upward gaze almost 20 years after conventional pituitary irradiation for a growth hormone secreting tumour. Her visual fields were full. Visual acuities were 6/9 in the right eye and 6/6 in the left eye. She had a complete left third nerve palsy. She was growth hormone deficient and had primary hypothyroidism, hypercholesterolemia and hypertension. These were well controlled on trea...

A 45-year-old woman was diagnosed with hypothyroidism at 26, Addison’s disease at 35 and primary ovarian insufficiency at 42. She is positive for adrenal and thyroid microsomal antibodies but negative for ovarian antibodies. She has a strong family history of autoimmunity. Interestingly, her mother has pernicious anaemia and hypothyroidism and her sister has hypothyroidism. A diagnosis of autoimmune polyglandular syndrome (APS) type 2 has been supported by the HLA haploty...

Langerhans cell (LCH) histiocytosis occurs in 1 per 560,000 adults with variable manifestations. It has a high rate of misdiagnosis due to its variable presentation and rarity. It is even more rare that it presents with simultaneous and multiple endocrine dysfunction early in the course of disease. We report a case of Langhans Cell Histiocytosis in an adult male presenting with central Diabetes Insipidus, Hypergonadotrophic Hypogonadism and pulmonary disease. A 36 year old mal...

A 69 year old lady was initially seen in clinic in August 2020 for a right adrenal incidentaloma which was discovered after she had a CT abdomen for diverticulitis related symptoms. She subsequently had a dedicated CT Adrenal in January 2019 before she was seen in clinic which showed a 25 x 32 mm right adrenal adenoma labelled as lipid poor with an absolute & relative washout of 67% and 47% respectively. Her past medical history included hypertension and anxiety disorder. ...

A 79-year-old female was admitted with general decline, polydipsia, polyuria, decreased appetite and constipation. Her family reported mobility decline over past six months and confusion over past few days with weight loss. She had hypertension on Amlodipine and renal impairment was only detected when she recently moved to UK from Jamaica. An incidental finding of hypercalcaemia was found with an adjusted calcium of 3.03, PTH 79.8, vitamin D 33 and phosphate 0.41. The initial ...

A 70 year-old male with a long standing history of IgG kappa paraproteinemia presented with sudden onset of confusional state. His friend had noticed short term memory lapses, behavioural changes, increased aggression and agitation for the last 3 months. He had developed proximal muscle weakness and pain. He was admitted to the hospital. He had no history of alcohol abuse, smoking or illicit drug use. He was not on any medication. He was under haematology surveillance for his ...

Case report: Von Hippel-Lindau Disease (VHL) is an autosomal-dominant disease with almost complete penetrance, characterized by the development of several types of neoplasia. Non-functioning pancreatic neuroendocrine tumours (pNETs) are part of the syndrome in up to 16% of the patients. A 36 year old female with a known diagnosis of VHL (Mutation exon 3) was under surveillance. She had previous surgeries twice for haemangioblastomas, and an adrenalectomy for phaeochromocytoma ...