Abstract Search

ea0029p465 | Clinical case reports - Thyroid/Others | ICEECE2012

Hypercalcaemia in pregnancy

Stokes V. , Whitelaw N. , Mihai R. , Ali A.

A 28 year old female with no significant medical history, 25 weeks into her second pregnancy was referred to endocrinology with adjusted calcium of 2.99 mmol/l. She had a short history of generalised aches and tiredness. Examination did not reveal any stigmata of MEN1 or the HPT-JT syndromes. There was no known family history of endocrine disorders. Her PTH was 7 pmol/l, confirming primary hyperparathyroidism. As parathyroid Tc-scintigraphy would be contraindicated in pregnanc...

0 shares

ea0026p58 | Endocrine tumours and neoplasia | ECE2011

A large adrenal tumour as a phenotypic manifestation of the Birt–Hogg–Dube syndrome

Juszczak A , Halliday D , Mihai R , Ali A

Introduction: The BirtHoggDube syndrome (BHDS) is a rare autosomal dominant genodermatosis characterised by presence of at least one of the following: benign skin fibrofolliculomas, lung cysts with recurrent pneumothoraces or renal tumours. The phenotypic constellation is due to heterozygous germline mutations of the tumour suppressor gene FLCN, located on 17p11.2, encoding a 579 aminoacid protein termed folliculin. Case reports have described endocrine tumo...

0 shares

ea0094p16 | Adrenal and Cardiovascular | SFEBES2023

Acute adrenal insufficiency related adverse events in children with congenital adrenal hyperplasia (CAH): Changes during the period 2019-2022 in I-CAH

Tseretopoulou Xanthippi , R Ali Salma , Bryce Jillian , Amin Nadia , Atapattu Navoda , Bachega Tania , Baronio Federico , H Birkebaek Niels , Bonfig Walter , Davies Justin H. , Thomas Tessy , de Vries Liat , Elsedfy Heba , H Amr Nermine , E Flueck Christa , Globa Evgenia , Zelinska Natalia , Guran Tulay , Yavas Abali Zehra , Guven Ayla , E Hannema Sabine , Iotova Violeta , Konrad Daniel , Lenherr-Taube Nina , P Krone Nils , Leka-Emiris Sofia , Vlachopapadopoulou Elpis , R Lichiardopol Corina , Marginean Otilia , L Markosyan Renata , Neumann Uta , Niedzela Marek , Phan-Hug Franziska , Poyrazoglu Sukran , Probst Ursina , Randell Tabitha , Russo Gianni , Carolina Salerno Maria , Shnorhavorian Margarett , van Eck Judith , Vieites Ana , Wasniewska Malgorzata , Faisal Ahmed Syed

Background: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compared t...

2 shares

ea0095oc8.4 | Oral Communications 8 | BSPED2023

Association of newborn screening of congenital adrenal hyperplasia with outcomes in the first 90 days of life: a multi-centre I-CAH registry analysis of contemporary practice

BN Lim David , Bryce Jillian , R Ali Salma , Tseretopoulou Xanthippi , H Birkebaek Niels , E Hannema Sabine , Campos-Martorell Ariadna , Clemente Maria , Neumann Uta , E Fluck Christa , Metzger Sara , E Krone Ruth , German Alina , Baronio Federico , Atapattu Navoda , N Seneviratne Sumudu , Cools Martine , Mieke Thery , Guran Tulay , Yavas Abali Zehra , Fu Antony , Janus Dominika , Wasniewska Malgorzata , Coco Roberto , Russo Gianni , Rita Stancampiano Marianna , Bonfig Walter , Salerno Mariacarolina , L Claahsen-Van Der Grinten Hedi , P.H. Adriaansen Bas , Bachega Tania , C Miranda Mirela , Marginean Otilia , De Sanctis Luisa , Probst Ursina , Lenherr-Taube Nina , Konrad Daniel , O'Connell Michele , Gawlik Aneta , E Sandberg David , Shnorhavorian Margarett , Krone Nils , Faisal Ahmed S , Davies Justin H

Aims: We studied the association of newborn screening (NBS) on early infancy outcomes in 21-hydroxylase deficiency (21OHD) congenital adrenal hyperplasia (CAH), using I-CAH registry data.Methods: From 2018-2023, data was available for 121 infants with 21OHD CAH (52 male) during the first 90 days of life from 26 centres in 15 countries. NBS was performed in 15 centres from 9 countries.Result...

1 shares

ea0094p161 | Adrenal and Cardiovascular | SFEBES2023

An international study of the association between local health care resources and acute adrenal insufficiency events in children with congenital adrenal hyperplasia

Tseretopoulou Xanthippi , R Ali Salma , Bryce Jillian , Nadia Amin , Atapattu Navoda , Bachega Tania , Baronio Federico , H Birkebaek Niels , Bonfig Walter , Claahsen-Van der Grinten L. Hedi , Cools Martine , de Sanctis Luisa , de Vries Liat , Elsedfy Heba , E Flueck Christa , Fu Antony , Guaragna-Filho Guilherme , Guran Tulay , Guven Ayla , E Hannema Sabine , Iotova Violeta , Konrad Daniel , Lenherr-Taube Nina , Korbonits Marta , P Krone Nils , Krone Ruth , Leka-Emiris Sofia , Lichiardopol R Corina , Luczay Andrea , L Markosyan Renata , Mazen Inas , Milenkovic Tatjana , Mohnike Klaus , Neumann Uta , Niedzela Marek , Nordenstrom Anna , Phan-Hug Franziska , Poyrazoglu Sukran , Probst Ursina , Randell Tabitha , Vieites Ana , Russo Gianni , Thankamony Ajay , van den Akker Erica , van Eck Judith , van der Kamp Hetty , G Wasniewska Malgorzata , Ahmed Syed Faisal

Background: The reported occurrence and management of acute adrenal insufficiencyrelated adverse events in children vary widely between centres and may depend on available resources.Methods: Real world data from the I-CAH Registry from 44 centres [32 from high income (HIC) and 12 from low/middle income (LMIC) countries] and a total number of 607 children were linked to the results of a health care survey of local r...