Endocrine Abstracts

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 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 ...

We present a 50-year-old man who was referred to endocrine clinic with painful gynaecomastia of 3 months duration. He was waiting hip replacement. He had history of a lump in his left breast 9 years ago. He had USS and FNA. He was treated with some tablets for a month and discharged from breast clinic. He had no other past medical history. He worked as a physical trainer to metropolitan police. He did not smoke or drink and was on no medication. He had never used recreational ...

Thyroidectomy is a definitive form of treatment for patients with hyperthyroid Graves’ disease particularly those who are noncompliant with or have serious side effects to the antithyroid drugs, have very large goitres, refuse 131I therapy or, have moderate to severe ophthalmopathy. The risk of perioperative thyroid storm is usually higher following an acute event such as surgery, trauma, or infection. Thus, patients with thyrotoxicosis presenting for surgery should ideal...

Functional hypothalamic amenorrhoea (FHA) is a disorder associated with functional inhibition of the hypothalamic-pituitary-ovarian axis due to deficiency of pulsatile GnRH. The incidence of FHA ranges from 15 to 48% of all secondary amenorrheas. The abnormal GnRH secretion leads to decreased pulses of gonadotropins, absent midcycle surges in luteinizing hormone (LH) secretion, absence of normal follicular development, anovulation, and low estradiol (E2). Causes of FHA can be ...