Endocrine Abstracts

Hyperparathyroidism is rarely encountered in pregnancy; however, the consequence of untreated disease can be significant for both the mother and fetus (increased risk of miscarriage, IUGR, pre-eclampsia, neonatal hypocalcaemia). NICE guidance (May 2019) on the management of PHPT strongly recommends disease control pre-pregnancy, MDT working and offering surgery if cCa is above 2.85 mmol/l. We report a 31-year-old P4 who was referred to our joint endocrine/obstetric clinic at 1...

Background: Normal maternal thyroid function is essential for optimal fetal neurological development. However, targeted screening for thyroid dysfunction in the first trimester of pregnancy, together with the criteria that should be applied, remains controversial.Aim: To determine the efficacy of targeted screening for discovering new cases of thyroid dysfunction in pregnancy.Method: All women who delivered their babies at Imperial...

Case history: A 40-year-old, primaparous woman was referred at 24 weeks’ gestation to Obstetric Medicine for review of abnormal thyroid function tests (TFTs).Investigations: One year prior to pregnancy, TFTs included a thyroid stimulating hormone (TSH) level of 0.95 mU/l (local non-pregnant reference range 0.3–4.2 mU/l) and a free thyroxine level (fT4) of 7.3 mU/l (local non-pregnant reference range 9.0–23.0 mU/l). At 18 weeks’ gestat...

Background: Primary hyperparathyroidism (PHPT) is a common cause of hypercalcaemia seen in outpatient endocrinology clinic. Diagnosis is based on biochemistry and exclusion of other conditions, such as familial hypocalciuric hypercalcaemia. Symptomatic patients should usually be referred for parathyroidectomy. For asymptomatic patients there are clear guidelines for surgical referral, based on the Fourth International Workshop (2014) recommendations. This study evaluates curre...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor expressed in the parathyroid gland and kidneys. Loss of function mutations of the CaSR result in familial hypocalciuric hypercalcaemia (FHH). Rarer, gain of function mutations of the CaSR result in hypercalciuric hypocalcaemia and are inherited in an autosomal dominant pattern. The phenotype varies from asymptomatic individuals, to profound hypocalcaemia. We present a severely affected individual whose case hi...

A 60-year-old woman presented to the endocrine clinic with significant hirsutism and male-pattern baldness, progressive since the menopause 5 years earlier. She was otherwise fit and well. Testing revealed an elevated serum testosterone of 14.2 nmol/L. A CT scan revealed a large malignant 19 cm mass arising from the left adnexa, a large fibroid uterus and 2 small masses in the left kidney. Other abdominal organs were normal with no visible ascites. With the presumption of mali...

Background: Hyponatremia is associated with increased, inpatient mortality and length of stay and correct management necessitates doing appropriate investigations for accurate diagnosis of the cause.Aim: The aim of this audit was to identify, the number of medical and surgical patients admitted with hyponatreima over a 4-week period; number of cases with mild (<135) vs moderate to severe cases of hyponatremia (<130 mmol/l); determine if hyponatre...

Thyroid hormone (TH) plays an important role for brain development. As the fetal thyroid gland only starts providing hormone at the end of pregnancy, the developing brain crucially depends on maternal thyroid hormone in early developmental periods. In previous studies, we have observed that in particular the central control of cardiovascular functions critically depends on maternal thyroid hormone for proper development; however, the precise window when the hormone is benefici...

Background: Thyroid incidentaloma (TI) is an unsuspected, asymptomatic thyroid lesion discovered on an imaging study performed for unrelated purposes. Reported incidence during 2-(18)(F) fluoro-2-deoxy-D-glucose positron emission tomography (18F-FDG-PET/CT) varies from 0.2 to 8.9%, with a quoted thyroid malignancy prevalence of 8-64%.Method: We reviewed all 18F-FDG-PET/CT scans performed in our institution over 52 mon...

Introduction: Cranial diabetes insipidus (DI) is a rare presenting complication of acute myeloid leukaemia (AML) or myelodysplasia, usually associated with complex cytogenetics. We report the case of a patient previously treated with cytotoxic therapy who presented with DI and AML. Case report: A 39 year old male presented with a three month history of lethargy, fatigue, and breathlessness. He also reported a ten day history of acute onset polydipsia and polyuria. He had been ...