Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 2 (MEN2) comprise a group of heritable disorders that result from mutations in the RET proto-oncogene on chromosome 10. MEN2 is sub classified into MEN2A and MEN2B; these syndromes are characterised by the development of tumours at multiple sites. MEN2A is characterised by medullary thyroid cancer, phaeochromocytoma, and primary parathyroid hyperplasia.Description/case presentation: The index case is a 49 y...

Introduction: Hypocalcaemia is a recognised cause of neonatal seizures most often related to vitamin D deficiency in the mothers of exclusively breast fed infants. There have also been case reports of an underlying diagnosis of hyperparathyroidism in a reportedly well mother becoming apparent after the infant presents with hypocalcaemic seizures. Maternal hypercalcaemia suppresses parathyroid activity in the foetus, which causes transient neonatal hypocalcaemia.<p class="a...

Background: IGF1 is the biochemical marker of growth as it is supposed to reflect the activity of the GH axis. The usefulness of IGF1 measurements in children under 3 years has not been verified to date.Aim: We analysed the relationship between serum IGF1 concentration and growth velocity (GV) in children under the age of 3 years.Methods: We compared 300 IGF1 concentrations taken in children younger than 3 years with their GV at ti...

A 65-year-old Moroccan man was regularly followed in the outpatient clinic for type 2 diabetes since 2010 and was well controlled with an oral treatment. His past medical history included severe hypertension since 1985. Despite four antihypertensive agents, his blood pressure was not controlled (BP: 220/120 mmHg). A suspicion of renal artery stenosis was excluded by an invasive procedure.He presented an impaired renal function (GFR: 50 ml/min) and his se...

We report on a 50-year-old patient of Moroccan origin, with insulin treated type 2 diabetes known for several years. He presented with a 6 months history of hypoglycemia, hypotension, associated with loss of libido and erectile dysfunction, anorexia, general deterioration and weakness. He had lost 20 kg over a 6-month period. The insulin doses were diminished from 70 to 42 U/day and the antihypertensive treatment was stopped due to repeated episodes of hypotension.<p class...

Introduction: Congenital hypopituitarism may be the result of complications linked with delivery or may sometimes result of insufficient development of the gland in the context of specific genetic abnormalities (PROK2 and PROKR2, LHX4, HESX1, OTX2, GLI2 and SOX3). Interruption or lack of pituitary stalk represents a frequent feature of congenital hypopituitarism.Case description: We present a patient 39-year-old with congenital panhypopituitarism, mental...

Polycystic ovary syndrome (PCOS) is a clinical triad of anovulation, hyperinsulinaemia, and androgen excess. Adipose androgen generation of testosterone from androstenedione by aldo-ketoreductase type 1C3 (AKR1C3) may contribute to hyperandrogenism. We hypothesised that insulin may upregulate adipose AKR1C3 expression in vitro in a human differentiated preadipocyte cell line.We analysed AKR1C3 expression in the SGBS human preadipocyte cell line....

Polycystic ovary syndrome (PCOS) is a clinical triad of anovulation, insulin resistance, and androgen excess in women. Adipose androgen generation of testosterone from androstenedione by aldo-ketoreductase type 1C3 (AKR1C3) may contribute to hyperandrogenism, particularly in the setting of obesity. We aimed to determine the effects of BMI and age on AKR1C3 expression in subcutaneous (SC) and omental (OM) fat depots in both women and men.Paired SC and OM ...

Background: Struma ovarii, defined as containing 50% or more thyroid tissue is rare and accounts for 1% of ovarian tumours. Presentation is non-specific, relating to mass effect. Although the tumour predominantly consists of thyroidal tissue, features of hyperthyroidism occur in <5% of cases. Majority are benign, histological features of thyroid cancer are found in about 5–10%. Seventy per cent of these are papillary thyroid cancer (PTC). We present a case of struma o...

Introduction: Patients with clinical clues suggesting the possible presence of secondary hypertension should undergo a more extensive evaluation, because in this case some of these disorders can be cured, leading to partial or complete normalization of the blood pressure.Case description: We report a case of a 43-year-old man, who suffered for years of hypertension despite concurrent use of adequate doses of three antihypertensive agents from different c...