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Endocrine Abstracts Vol 62 Endocrine Abstracts April 2019 Volume 62 ISSN 1479-6848 (online) Society for Endocrinology Endocrine Update 2019 published by Online version available at bioscientifi ca www.endocrine-abstracts.org Volume 62 Endocrine Abstracts April 2019 Society for Endocrinology: Endocrine Update 2019 08–10 April 2019 Programme Chairs: Dr James Ahlquist (Essex) Dr Peter Taylor (Cardiff) Abstract Markers: Dr Simon Aylwin (London) Dr Kristien Boelaert (Birmingham) Dr Karin Bradley (Bristol) Dr Andrew Lansdown (Cardiff) Dr Daniel Morganstein (London) Dr Helen Turner (Oxford) Professor Bijay Vaidya (Exeter) Dr Nicola Zammitt (Lasswade) Society for Endocrinology: Endocrine Update 2019 CONTENTS Society for Endocrinology: Endocrine Update 2019 NATIONAL CLINICAL CASES Oral Communications . ...................................... OC1–OC10 Poster Presentations . ....................................... P01–P73 CLINICAL UPDATE Workshop A: Disorders of the hypothalamus and pituitary . WA1–WA11 Workshop B: Disorders of growth and development . WB1–WB3 Workshop C: Disorders of the thyroid gland ..................................... WC1–WC10 Workshop D: Disorders of the adrenal gland ..................................... WD1–WD16 Workshop E: Disorders of the gonads . ..................................... WE1–WE10 Workshop F: Disorders of the parathyroid glands, calcium metabolism and bone . WF1–WF3 Workshop G: Disorders of appetite and weight . WG1–WG2 Workshop H: Miscellaneous endocrine and metabolic disorders . WH1–WH9 Additional Cases . ...................................... CB1–CB14 INDEX OF AUTHORS Endocrine Abstracts (2019) Vol 62 Society for Endocrinology: Endocrine Update 2019 National Clinical Cases Endocrine Abstracts (2019) Vol 62 Society for Endocrinology: Endocrine Update 2019 Oral Communications OC3 OC1 A case of Birt-Hogg-Dube´ syndrome presenting with a rare oncocytic Virilisation at puberty – a new subtype in the spectrum of NR5A1 non-secretory phaeochromocytoma James MacFarlane1, Piotr Plichta1, Soo-Mi Park2, Alison Marker3, mutations 4 5 1 1 1 1 1 Leena Krishnan , Sadiyah Hand & Khin Swe Myint Carol Cardona Attard , Sanem Atakan , Caroline Finill , Louise Williams , 1 1 2 1 Department of Endocrinology, Norfolk and Norwich University Hospital, Sarah Creighton , Noina Abid & Gerard Conway 2 1Adult DSD Clinic, University College London Hospitals, London, UK; Norwich, UK; East Anglian Medical Genetics Service, Cambridge 2Royal Belfast Hospital for Sick Children, Belfast, Ireland. University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Norwich, UK; 3Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; 4Department Case history of Endocrinology, James Paget Hospital, Great Yarmouth, UK; 5Department A 14.5-year-old girl was brought forward by her mother to the paediatric of Respiratory Medicine, Norfolk and Norwich University Hospital, endocrine clinic in view of virilised genitalia, absent breast development and Norwich, UK. primary amenorrhoea. Her genital appearance had changed gradually throughout childhood though she never disclosed this to her parents. She was otherwise healthy with no significant family history of note. On examination, she had fused Case history Birt-Hogg-Dube´ syndrome (BHDS) is a rare autosomal dominant disorder caused labioscrotal folds containing 10–12 ml testis. There was no obvious vaginal FLCN folliculin dimple and she had a 7 cm clitoral-penile structure with hypospadias, stage 4 by heterozygous pathogenic variants in the gene encoding on chromosome 17p11, first described clinically in 1975. It is a ‘hamartomatous’ pubic hair and stage 2 breast development. At 17 she was referred to UCLH adult DSD service for gonadectomy. disorder usually manifesting with pulmonary cysts, benign cutaneous tumours Investigations and conferring a high risk of renal malignancy. A 43 year old man had a 34 x 22 mm right adrenal nodule discovered incidentally on a CT CAP. Relative Tests included an endocrine profile, synacthen test, 3-day human chorionic gonadotropin (HCG) test, a urine steroid profile and pelvic ultrasound. Genetic percentage washout was reassuring at 77%. Relevant past medical history included a recent hemithyroidectomy with histology diagnostic of a follicular tests included a karyotype and testing for disorders of sexual development (DSD) mutations. adenoma. A diagnosis of multiple sclerosis was made at the age of 22 following episodes of retrobulbar neuritis, on the basis of an MRI showing multiple areas of Results and treatment high signal in the periventricular area. In terms of family history; the patient’s Bloods showed the following: AMH of 24.7 pmol/l (females 3.0–46.6; males 9.4–331.8), inhibin B 65 ng/l (females !341; males 25–325), DHEAS mother also had a diagnosis of multiple sclerosis in addition to a spontaneous pneumothorax requiring drainage and a sublingual lipoma. The patient’s maternal 6.76 umol/l (females 1.2–6.7; males 2.8–10.0), 17-hydroxyprogesterone 2.8 nmol/l (0.3–6.3), testosterone 8.5 nmol/l, oestradiol 51 pmol/l, LH 2.8 IU/l grandparents had multiple (poorly characterised) malignancies. Clinical examination showed an absence of BHDS-related skin lesions. Blood pressure and FSH 10.4 IU/l. TFTs, synacthen test, 3-day HCG test and urinary steroid was 144/90. profile were normal. Karyotype was 46XY. A variant mutation of NR5A1 gene was found. No Mullerian structures were observed on pelvic ultrasound and testes Investigations There was no evidence of endocrine functionality. 24-hour urinary free cortisols were present in the labioscrotal folds bilaterally. She was referred to a clinical psychologist and following prolonged consultations opted for feminising therapy (228 and 118 nmol) (50–300), 24-hour urinary normetadrenaline (0.2 umol x 2) (0.0–3.8), 24-hour urinary metadrenaline (0.1 umol x2) (0.0–2.2), plasma renin after given the options of masculinising/feminising surgery or let nature take its course. She was started on a gonadotropin-releasing hormone agonist and later 6.0 mU/l (5.4–60) and aldosterone 127 pmol/l (90–720). Interval imaging showed started on oestradiol valerate 1 mg, which was eventually increased to 2 mg in the adrenal nodule had grown to 51 x 40 mm prompting a laparoscopic right adrenalectomy. view of fatigue. She is due to have gonadectomy later on this year with examination under anaesthesia and cystoscopy. Subsequent surgeries will involve Results and treatment Histologically the morphological and immunohistochemical findings were felt clitoral reduction and vaginoplasty. Conclusion and points for discussion to be somewhat ambiguous. Given the positivity with markers for CD56 and synaptophysin and the negative SF1 immunohistochemistry a diagnosis of Virilisation at puberty is a feature of several forms of 46XYDSD of which oncocytic pheochromocytoma was made. PASS score 7/20. A PET CT showed NR5A1 mutations are a relatively recently recognised subtype. This is a difficult clinical scenario as the natural history of gender identity is not well described as bilateral multiple pulmonary cysts in a predominantly basal distribution. Sequencing of the FLCN gene showed the patient to be heterozygous for a individuals grow older. Gamete preservation in DSD is often not routinely offered but is likely to become an important part of management. It is important not to pathogenic variant c.1285dupC, p.(His429ProfsTer27) confirming BHDS. Conclusions rush with irreversible gender assigning medical and surgical therapy. Hormonal blocking therapy may be the most appropriate treatment until the patient has Oncocytic variant pheochromocytoma is very rare histological subtype where the received prolonged psychological therapy and is more mature to decide regarding tumour cells have an eosinophilic granular cytoplasm. Only 6 cases have been reported in the literature. Only one other case of an adrenal oncocytic tumour has gender assigning treatment. been reported in a patient with BHDS; this was also non-secretory. We present the DOI: 10.1530/endoabs.62.OC1 first reported case of BHDS associated with multiple non-functioning endocrine tumours. Under current ESE guidance the initial adrenal nodule is classified as radiologically benign despite the histological diagnosis. DOI: 10.1530/endoabs.62.OC3 OC4 A novel PHEX mutation, p.(Trp749Ter), is associated with hypophosphataemia and rhabdomyolysis in adulthood Kirsty Mills de Mezquita1, Mie Olesen2, Rebecca Brown3, Melissa Sloman4, Rajesh Thakker5 & Fadil Hannan1,2,5 1Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK; 2Department of OC2 Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK; 3Department of Nephrology, Royal Liverpool University Hospital, Liverpool, UK; 4Department of Molecular Genetics, Royal Devon & Exeter NHS Hospital, Exeter, UK; 5Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK. Abstract Unavailable. Case History X-linked hypophosphataemia (XLH) manifests as rickets in infancy or childhood, and is caused by mutations of the phosphate-regulating neutral endopeptidase (PHEX) gene, which leads to excess production of the fibroblast growth factor-23 (FGF-23) hormone. We present a case illustrating that mutation of PHEX can also Endocrine Abstracts (2019) Vol 62 Society for Endocrinology: Endocrine Update 2019 cause hypophosphataemia presenting in adulthood. The proband is a 56-year-old Discussion male, who was referred
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