Endocrine Abstracts

Multiple Endocrine Neoplasia (MEN) type 1 and type 2 are autosomal dominant familial cancer syndromes characterised by the development of multiple endocrine tumours that can present at different sites, at different times. Management can be complex and requires a coordinated, multi-disciplinary approach that covers presentation, diagnosis, treatment and long term review. This may not match up with some established models of service delivery and challenges us to develop clinical...

77 year old gentleman was referred to endocrine clinic at Manchester Royal Infirmary in June 2017 due thyrotoxicosis with TSH 0.10 mu/l, free T4 24.3 pmol/l, and free T3 15.7 pmol/l. He was presented at that time with symptoms of tiredness, fatigue and tremor. He was initially treated with antithyroid drugs from June 2018 till May 2018 with radioactive iodine 579 MBq in May 2018. Subsequently, he developed symptoms of excessive tiredness, lack of energy, weight gain and cold i...

A 44 year old lady presented with weight loss to the gastroenterologists and a CT abdomen done picked up a mass below the pancreas. She underwent a percutaneous biopsy of this mass and the histology revealed a paraganglioma. She was referred to the endocrinology team. Subsequent questioning revealed coexistent symptoms of cataecholamine excess and plasma metanephrines of 4825 pmol/l and plasma normetanephrines of 166 pmol/L gave biochemical confirmation. MIBG scan showed a dir...

A 45-year old lady admitted to hospital in October 2018 with generally unwell and nausea. She has a background of disseminated T.B. confirmed by EBUS with bronchoalveolar lavage in September 2018. She had previous CT thorax, abdomen and pelvis in September 2018 which was reported as extensive lymphadenopathy with omental and peritoneal thickening. She also has a history of vitamin D deficiency in August 2018 at 7.1 nmol/l and was treated with oral colecalciferol. The biochemic...

Background: Vitamin-D deficiency and type 2 diabetes (T2D) are common in South Asians (SA). The diagnosis of a vitamin-D deficiency in the setting of a chronic disease depends on a high index of suspicion and adequate investigation. This involves bone profile, occasionally in conjunction with serum 25-hydroxyvitamin-D. The ability of routine investigations to identify vitamin-D deficient patients have not been widely studied.Aims: To assess the ability o...

Since the observation in 1961, that phenytoin treatment caused a reduction in protein bound iodine, the effect of various anticonvulsants on the thyroid hormones and in causing sub clinical and overt hypothyroidism has been a matter of debate. There are no reports linking newer antiepileptics like lamotrignine to thyroid hormone abnormalities. We report three patients who developed overt hypothyroidism while on treatment with Primidone, Lamotrignine and Carbamazepine respectiv...

VHL is an autosomal dominant familial cancer syndrome with renal, CNS and pancreato-biliary manifestations in addition to phaeochromocytoma (PC)/paraganglioma (PGL). Importantly, there is a partial genotype–phenotype correlation, with kindreds harboring deletions and mutations of the VHL gene leading to premature termination/truncation not manifesting PC/PGL. As genetic testing in PC/PGL moves from a research-focus into clinical service, knowledge and understanding...

Familial hypopituitarism is a heterogeneous group of disorders with variable clinical, biochemical and genetic characteristics. X-linked forms have been described in rare kindreds, though clinical and molecular features are not well defined. We present a case of X-linked hypopituitarism in a young male.The patient, currently 39 years, had an early course complicated by neonatal jaundice, seizures and subsequent failure to thrive. Hypothyroidism was diagn...

Growth Hormone (GH) deficiency in the adult is associated with sub-optimal bone mineral density (BMD) and reduced bone turnover. GH replacement therapy results in increased bone turnover and new bone formation with biphasic changes in BMD: We report a case in which the anabolic effects of GH on bone precipitated profound Vitamin D (Vit D) deficiency.The patient 56-year-old man with panhypopituitarism following treatment for acromegaly commenced adult GH ...

An ovo-testis (a gonad showing aspects of both ovarian and testicular function) occurs in some 60% of true hermaphrodites. They may be located in the labio-scrotal folds, inguinal canal or abdomen and are often removed prior to or shortly after the onset of puberty. Though the potential for ovulatory function within such a gonad is acknowledged, it is rarely witnessed and there are few detailed descriptions of the phenomenon. We describe serial observations of this process in ...