Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1

ea0090oc5.1 | Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

CYP21A2-R484Q mice, a humanized mutant animal model for congenital adrenal hyperplasia

Ramkumar Thirumalasetty Shamini , Schubert Tina , Naumann Ronald , Reichardt Ilka , Rohm Marie Luise , Landgraf Dana , Gembardt Florian , Peitzsch Mirko , Hartmann Michaela F , Sarov Mihail , Wudy Stefan A , Reisch Nicole , Huebner Angela , Koehler Katrin

Congenital Adrenal hyperplasia (CAH) refers to a group of autosomal-recessive inherited disorders of impaired adrenal steroidogenesis. The most common form is 21-hydroxylase deficiency (21-OHD) caused by mutations in the CYP21A2 gene. Patients lack glucocorticoids and in some cases mineralocorticoids, and present with androgen excess causing hypoglycemia, live-threatening salt wasting, virilisation, and precocious puberty. Treatment includes the replacement of deficie...

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ea0090oc5.2 | Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

The association between hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia

Schroder Mariska , Neacşu Mihaela , Sweep Fred , Span Paul N , Adriaansen Bas , van Herwaarden Antonius , Bryce Jillian , Ahmed Faisal , Ali Salma , Aparecida Sartori Sanchez Bachega Tania , Baronio Federico , Holtum Birkebaek Niels , Bonfig Walter , Clemente Maria , Cools Martine , de Bruin Christiaan , de Vries Liat , Elsedfy Heba , Globa Evgenia , Guran Tulay , Guven Ayla , Amr Nermine Hussein , Januś Dominika , Konrad Daniel , Markosyan Renata , Miranda Mirela , Poyrazoğlu Şukran , Rees Aled , Salerno Mariacarolina , Stancampiano Marianna Rita , Vieitis Ana , Abali Zehra Yavas , - van der Grinten Hedi Claahsen

Background: Testicular Adrenal Rest Tumors (TART) in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency (11OHD) are benign lesions causing testicular damage and infertility. We hypothesize that high ACTH exposure due to poor hormonal control during early life is promoting development of TART later in life.Objective: This study aims to examine the relation between early CAH diagnosis and cons...

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ea0090oc5.3 | Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

Switching patients with Congenital Adrenal Hyperplasia to Modified release hydrocortisone capsules: relative bioavailability and disease control

Ross Richard John M , Rees Aled , P. Merke Deborah , Arlt Wiebke , Brac De La Perriere Aude , Linden Hirschberg Angelica , Juul Anders , D. C. Newell-Price John , Perry Colin Graham , Prete Alessandro , Reisch Nicole , Stikkelbroeck Monica , A. Touraine Philippe , Mallappa Ashwini , Aslam Naila , Coope Helen , Porter John

Background: Modified-release hydrocortisone (MRHC) capsules (Efmody, Diurnal Ltd, Cardiff, UK), have been developed to replicate the cortisol diurnal rhythm and shown to improve CAH disease control1. We have examined relative bioavailability of MRHC and disease control of congenital adrenal hyperplasia (CAH) patients switched from standard therapy to MRHC.Methods: An open label, randomised, 2 period, crossover study comparing the relative bioavailability...

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ea0090oc5.4 | Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

Adrenal Insufficiency Associated with Biallelic Mutations in Porphyria Genes

Smith Chris , Jackson Adam , Al-Salihi Ahmed , Janecke Andreas , Steichen Elisabeth , Darby Denise , Griffin Liezel , Banka Siddharth , Elsayed Solaf , Chan Li , Metherell Louise

Adrenal insufficiency (AI) is life-threatening and can present alone or in combination with other co-morbidities. Here we describe families with a novel association of AI with porphyria caused by biallelic mutations in protoporphyrinogen oxidase (PPOX) or coproporphyrinogen oxidase (CPOX). The porphyrias are a group of disorders caused by defects in one of eight enzymes within the haem biosynthetic pathway, divided into acute porphyrias, resulting in mainly n...

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ea0090oc5.5 | Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

Moving to liquid chromatography-tandem mass spectrometry to assess hypercortisolism states through dexamethasone suppression test: comparison with two routinely used immunoassays

Rotolo Laura , Tucci Lorenzo , Vicennati Valentina , Pagotto Uberto , Di Dalmazi Guido , Fanelli Flaminia

Background: The dexamethasone suppression test (DST) is among essential tests for hypercortisolism diagnosis. Due to high sensitivity and specificity, liquid chromatography-tandem mass spectrometry (LC-MS/MS) is replacing obsolete immunoassays (IA) for steroid measurement. However, exhaustive data about IA and LC-MS/MS concordance in the frame of DST are still not available.Aim: To compare cortisol measurements by two routine IAs and LC-MS/MS in basal (F...

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ea0090oc5.6 | Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

Venous thromboembolism complications in Cushing’s syndrome: results of a secondary survey within the European Registries for Rare Endocrine Conditions (EuRRECa) and the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

Cherenko Mariya , Appelman-Dijkstra Natasha , Priego Zurita Ana Luisa , Klok F.A. , Biermasz Nienke , M. Dekkers Olaf , Ahmed Faisal , Pereira Alberto M.

Background: Venous thromboembolism(VTE) is a well-known perioperative complication in patients with Cushings syndrome(CS) and may be preventable. A recent report highlighted that thromboprophylaxis management in patients with CS still varies considerably across Endo-ERN reference centers but the actual incidence of VTE and its management in individual patients is unclear.Aim: To collect epidemiological and clinical data of new cases of CS reported ...

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Endocrine Abstracts

25th European Congress of Endocrinology