Endocrine Abstracts

Background: Conn’s syndrome accounts for 35% of primary hyperaldosteronism. Elevated plasma aldosterone concentration to renin activity is widely used as a screening diagnostic tool. However, we report an unusual presentation of Conn’s syndrome with normal plasma renin aldosterone ratio.A 48-year-old man was seen in endocrine clinic with uncontrolled hypertension and severe hypokalemia. Primary hyperaldosteronism was suspected with blood pressu...

Background: In a research setting, complex behavioural interventions are effective in changing lifestyle behaviour and inducing weight loss. However, these are viewed as requiring a high number of different health care professionals to be successful and thus few are available in the NHS setting. Here we describe how we developed and piloted a complex behavioural intervention for participants with severe morbid obesity.Methods: Using input from a psycholo...

XY disorders of sexual development (DSD) are rare causes of primary amenorrhea and are associated with significant diagnostic and therapeutic implications. We report a novel association of compound heterozygous missense NUP107 variants in a girl with hypergonadotropic hypogonadism and XY karyotype. This 17-year-old girl born of consanguineous marriage presented with absent breast development and primary amenorrhea. Her past medical history included the surgical removal of an a...

Background: Childhood growth monitoring aims to identify growth failure and detect underlying pathology. According to UK guidance, height <-2.7 standard deviation score (SDS) (<0.4th percentile) is used as the referral threshold. Additional referral criteria include height deficit (HSDS-target height SDS) <-2.0 and height velocity (HV) SDS <-1.3. Lack of routine HV and mid-parental height calculation, combined with stricter cut-offs compared to other European c...

Background: Compound heterozygous POLE1 mutations have previously been described as a cause of IMAGe syndrome. The severity of the adrenal insufficiency (AI) at initial presentation has been a subject of ongoing debate. Case report: At 22 weeks gestation the proband’s mother was referred to paediatric endocrinology for low oestriol on antenatal quadruple testing. The pregnancy was complicated by severe growth restriction leading to emergency caesare...

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is rare and caused by mutations in the steroidogenic acute regulatory (STAR) gene, which is involved in a key step in the synthesis of pregnenolone from cholesterol. Cases typically present in the first days of life with severe adrenal crisis, salt wasting and severely disrupted androgen secretion which may result in sex reversal in 46, XY individuals.Case report: We present a 21-month-o...

Background: Accurate evaluation of growth is a key assessment of child health, in the UK use of a paper growth chart is currently standard practice. Our trust had a drive to become paper light thus there needed to be a way to store growth data electronically. Growth data is often incompletely documented. A previous review of children’s outpatient attendances at our hospital found that across medical, surgical and tertiary specialties only 33% of children had growth data d...

Primary hyperparathyroidism (PHPT) is a common endocrine disorder with a prevalence of 0.86% in Europe. Approximately 10% of cases are hereditary. Syndromic PHPT occurs as part of multiple endocrine neoplasia (MEN)1, MEN4, MEN2A and hyperparathyroidism jaw tumour syndrome. Non-syndromic causes include familial hypocalciuric hypercalcaemia. Establishing the underlying genetic cause allows for targeted, cost effective management. Current guidelines recommend that genetic testing...

Primary hyperparathyroidism (PHPTH) is a common endocrine disorder and it is estimated that 10% of cases are hereditary, related to syndromes including; multiple endocrine neoplasia (MEN) type 1, MEN type 4, MEN2A and hereditary hyperparathyroidism jaw tumour syndrome. Further hereditary cases can occur in the absence of syndromic features such as familial hypercalcemia hypocalcuria. Identifying cases of hereditary PHPTH enables a personalised medicine approach. Current guidel...

There is limited evidence for the role of screening for Cushing’s syndrome (CS). Patients referred to the specialist medical weight management service at Musgrove Park Hospital have routinely been screened for CS with either an overnight dexamethasone suppression test (ODST) or two 24hour urinary free cortisol (UFC) if evidence of dysglycaemia. We retrospectively analysed the results of all patients referred to the service between 2013–2016. 794 patients were seen as...