Searchable abstracts of presentations at key conferences in endocrinology

ea0063p17 | Adrenal and Neuroendocrine Tumours 1 | ECE2019

Unilateral non-haemorrhagic adrenal infarction (NHAI) as a cause of abdominal pain during pregnancy

Chasseloup Fanny , Bourcigaux Nathalie , Christin-Maitre Sophie

Adrenal infarction is usually associated with bilateral adrenal hemorrhage in the setting of antiphospholipid syndrome or hemodynamic variation. A few cases of unilateral non-hemorrhagic adrenal infarction (NHAI) have been described in the literature. Here, we report a case of unilateral non-haemorrhagic adrenal infarction occurring during pregnancy and a literature review of this clinical entity. A 30-year-old woman presented at 32 weeks of gestation with sudden-onset right a...

ea0035p660 | Female reproduction | ECE2014

Spontaneous fertility and pregnancy outcome in 321 women with Turner syndrome

Bernard Valerie , Donadille Bruno , Christin-Maitre Sophie , CRMERC Groupe

Introduction: Turner syndrome (TS) is a chromosomal aberration with a total or partial loss of one of the two X chromosomes, occurring in 1/2000–1/2500 newborn girls. Primary ovarian insufficiency is a classic feature of this syndrome. Therefore, fertility preservation is proposed to girls or adolescents with TS. So far, no pregnancy has been reported in TS women after ovarian or oocyte freezing. The aim of our study was to evaluate the prevalence and the outcome of spont...

ea0041gp188 | Reproduction & Endocrine Disruption | ECE2016

Human 3β-hydroxysteroid dehydrogenase deficiency associated with a normal spermatic numeration despite a severe enzyme deficit, after an accomplished transition period

Donadille Bruno , Cabrol Sylvie , Houang Muriel , Lebouc Yves , Morel Yves , Netchine Irene , Christin-Maitre Sophie

Human 3β-hydroxysteroid dehydrogenase deficiency is a rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations, leading to steroidogenesis impairment in both adrenals and gonads. The transition period is important for a successful adult fertility, but information about fertility is lacking in this rare disease.The patient presented with salt wasting at birth in Trousseau Hospital. Consanguinity was present, since the parents ...

ea0056ep22 | Adrenal and Neuroendocrine Tumours | ECE2018

Composite pheochromocytoma with neuroblastoma: a case report

Mavromati Maria , Jaafar Jaafar , Kalbermatten Benedicte De , Maitre Sophie , Gariani Karim , Gastaldi Giacomo , Philippe Jacques

A 24-year old female patient was referred to the endocrinology department after discovery of a left adrenal tumor measuring 4×5 cm, on a CT-scan performed for recurrent back pain. She had a history of lower extremity lymph-oedema since the age of 13 years and juvenile xanthogranulomas operated at the age of 2 years. The tumor had a high density in native CT sequences (48 Hounsfield Units). MRI showed T1 iso-intensity and T2 hyper-intensity, as well as lymph nodes of the c...

ea0063gp245 | Disturbances of Reproduction | ECE2019

MRI detection of aortic anomalies in 204 adult patients with Turner syndrome: a longitudinal study

Donadille Bruno , Tuffet Sophie , Bourcigaux Nathalie , Nedelcu Mariana , Monnier-Cholley Laurence , Rousseau Alexandra , Christin-Maitre Sophie , And Heart Study Group Turner

Mortality is 3 fold higher in patients with Turner syndrome (TS) than in the general population, primarily due to cardiovascular complications. Recent clinical guidelines (Gravholt et al. EJE 2017) underlined the need of a lifelong cardiovascular follow-up. However, prospective studies evaluating the aortic natural history in clinical practice are scarce. We performed a monocentric longitudinal study including 204 adult TS patients, between 2005 and 2018. Inclusion criteria we...

ea0090p179 | Reproductive and Developmental Endocrinology | ECE2023

Characteristics of dilated aortas in patients with Turner syndrome: clinical, histological and cytogenetic analysis

Donadille Bruno , Alexander Valent , Kisaki Amemiya , Nicolas Rive-le-gouard , tatiana lecot-connan , Laurence Iserin , Paul Achouh , Salenave Sylvie , Patrick Bruneval , Jean-Pierre Siffroi , Christin-Maitre Sophie

Turner syndrome (TS) is a rare condition with a high frequency of aortic dilatation (AD) and a risk of aortic dissection. Our objective was to evaluate the characteristics of the aorta in patients with TS.Methods: Analyses of aortic walls were obtained during prophylactic aortic replacement. Histological description and measurement of a standardized media degenerative score (MDC) were performed. Cytogenetic analysis quantified the level of monosomy X in ...

ea0049gp19 | Adrenal 2 | ECE2017

Plasma cortisol and aldosterone responses to insulin tolerance test and sodium depletion in women with non classic 21-hydroxylase deficiency caused by bi-allelic CYP21A2 mutations (NC-CAH)

Kamenicky Peter , Blanchard Anne , Lamaziere Antonin , Donadille Bruno , Duranteau Lise , Salenave Sylvie , Pietri Laurence , Raffin-Sanson Marie Laure , Gautier Jean-Francois , Chanson Philippe , Maitre Sophie Christin , Tardy Veronique , Bouc Yves Le , Brailly-Tabard Sylvie , Young Jacques

NC-CAH is diagnosed in pubertal/post-pubertal women because of androgen excess however, the risk of potential adrenal insufficiency is not known, and indication of systematic glucocorticoid replacement therapy is controversial.Design: Prospective controlled clinical study in a tertiary referral center. 20 women with NC-CAH (serum stimulated 17-OHP >10 ng/ml/250 μg, Synacthen) comparatively to matched healthy women, were included if they had not ...

ea0049gp148 | Male Reproduction and Endocrine Disruptors | ECE2017

Impacts of a single ablative dose of radio iodine therapy for differentiated thyroid carcinoma on testicular function: results from the SAPIRA study

Bourcigaux Nathalie , Rubino Carole , Berthaut Isabelle , Donadille Bruno , Toubert Marie Elisabeth , Leenhardt Laurence , Corone Catherine , Petrot-Keller Isabelle , Brailly-Tabard Sylvie , Beaufaron Julie , Simon Tabassome , Siffroi Jean-Pierre , De Vathaire Florent , Sclumberger Martin , Bouchard Philippe , Christin-Maitre Sophie

Background: Radioactive iodine therapy (RAI) is a classical therapeutic approach in patients with differentiated thyroid carcinoma (DCT). Few data are currently available on RAI’s potential impacts on testicular function.Design: A longitudinal prospective multi-center study (PHRC N°P040419) included male patients before a single radioiodine dose of 3.7 GBq of I 131 (V0), at 3 months (V3) and 13 months (V13) post treatment.<p clas...