Endocrine Abstracts

Introduction: Sphingosine-1-phosphate lyase (SGPL1) catalyses the final step in sphingolipid metabolism, irreversibly degrading the lipid signalling molecule sphingosine-1-phosphate (S1P). The relative abundance of S1P compared to its precursors sphingosine and ceramide finely tunes signal transduction for a wide range of cellular pathways including proliferation, apoptosis, migration and calcium handling. Loss-of-function mutations in SGPL1 cause a spectrum of disorders, incl...

Primary aldosteronism (PA) accounts for the largest proportion of cases of secondary hypertension worldwide. The majority of PA cases are a result of a unilateral aldosterone-producing adenoma (APA). The pathogenesis of APAs, the most curable form of hypertension, has been the focus of worldwide clinical interest, and is associated with mutations in four genes: KCNJ5, ATP1A1, ATP2B3, and CACNA1D. Investigation into these mutations may lead t...

A 38-year-old lady, who was 9 months post-partum, presented in 2008 with hirsutism, acne and abdominal discomfort. She was virilised and had an easily palpable right upper quadrant mass. Biochemistry revealed mild hypokalaemia (K 3.3 mmol/l), low albumin and gross elevation of serum androgens (androstenedione 93.9 nmol/l, DHAS 37.7 μmol/l and testosterone 13.7 nmol/l). UFC was 380 nmol/24 h but following 1 mg dexamethasone, cortisol suppressed fully. Urine steroi...

A 38-year-old lady presented in 2003 with a 2 years history of recurrent pneumonia, with CXR having demonstrated intermittent right lower zone consolidation. CT of chest revealed dense right lower lobe consolidation and a 2.5 cm tumour occluding the right lower lobe orifice was found on bronchoscopy. Strongly positive immunohistochemical staining for chromogranin, NCAM, PGP 9.5 and synaptophysin suggested carcinoid so right lower and middle lobectomy was performed. Histology c...

Background: Obese young people are likely to suffer significant morbidity in adult life. Successful intervention during adolescence may have far-reaching benefits. Evidence is emerging that patient-responsive clinical services may deliver improved outcomes.Aims: To assess the perceptions of obese young people about weight and weight-management services.Method: Annonymised, postal questionnaire survey of 116 obese young people (9&#1...

An estimated 5% of all newborns are born SGA (weight less than −2SD at birth), with 10% failing to catch up and becoming eligible for GH treatment. Not all children respond to GH, but the criteria for determining a non-responder have not been clearly defined. We have therefore evaluated first year growth performance of short SGA children treated with GH in The Growth Clinic, Manchester. Clinical and auxological data were collected retrospectively from the case records of...

Background: Seeing the doctor alone has been associated with a better outcome following transition to adult services.Methods: A simple questionnaire was designed for young people (YP) to enquire about being seen alone in paediatric endocrine clinics.Results: The questionnaire was administered to 72 YP young people (37 male) with long term endocrine conditions. The mean age was 15.5 (2.5). 10% of YP thought they should be offered th...

We present a 23 years old woman presenting in the 22nd week of pregnancy with 3 months history of facial hirsutism and progressive deepening of her voice. There had been an episode of vaginal bleeding during the 8th week of pregnancy. Prior to pregnancy the patient had been well and had had no symptoms suggestive of hyperandrogenism. On examination she had facial hirsutism. Her voice was deep. Florid abdominal striae were noted. Examination was otherwise unremarkable.<p cl...

We report a falsely elevated blood spot thyrotrophin (TSH) concentration caused by a TSH-IgG complex. A routine blood spot screen returned a whole blood TSH of 213 mU/l from a one week-old neonate using the Wallac DELFIA method. Measurement in serum confirmed elevated TSH (826 mU/l, Roche Elecsys assay) but free thyroxine (17.2 pmol/l) was normal. The baby’s mother was clinically euthyroid but also showed discordant high serum TSH (287 mU/l) with normal free thyroxine (13...

Background: IRS consists of ≥3 of the following components: obesity (BMI >98th centile), abnormal insulin glucose homeostasis, hypertension, dyslipidaemia. Elevated serum alanine aminotransferase (ALT) is a marker of NAFLD.Objective: To define the prevalence of IRS and NAFLD in obese children referred to our centre.Methods: subjects: mean BMI-SDS +6 (+0.6 to +14), median age 13.4 years (3–19), female 66%, British Asi...