Searchable abstracts of presentations at key conferences in endocrinology

ea0041oc7.2 | Cardiovascular endocrinology | ECE2016

Cardiovascular and metabolic morbidity in adult patients with classic congenital adrenal hyperplasia

Paizoni Luisa , Schaefer Kerstin , Thomas Evelina , Reisch Nicole

Background: Several studies suggest health problems in adult patients with CAH. However, data is inconsistent and based on small and relatively young cohorts.The aim of this study was to analyze the metabolic and cardiovascular health in a cohort of 90 adult patients with classic CAH.Subjects and methods: Participants included 90 patients with classic CAH: age range 18–62 years (mean 32.9±10.5, median 29.2) 39 male, 51 fe...

ea0016oc4.2 | Bone and adrenal | ECE2008

Reduced fertility rates and high prevalence of testicular adrenal rest tumors (TART) in male patients with congenital adrenal hyperplasia

Reisch Nicole , Flade Linda , Reincke Martin , Beuschlein Felix

Objective: To evaluate reduced fertility rates and their possible causes in a cohort of well controlled male adult patients with congenital adrenal hyperplasia.Methods: We clinically assessed 22 male patients with congenital adrenal hyperplasia (15 salt wasting form, 7 simple virilising, age 18–49) according to their hormonal control. Further, we performed testicular ultrasound, MRI of the testis and a sperm count of each. As laboratory markers 17-O...

ea0070aep8 | Adrenal and Cardiovascular Endocrinology | ECE2020

Structural instability of mutant variants of 21-Hydroxylase

Meese Nicolas , Sil Paul Pallabi , Haslbeck Martin , Huebner Angela , Reisch Nicole

Congenital adrenal hyperplasia (CAH) summarizes a group of genetic disorders of enzymes involved in cortisol biosynthesis. The most common causes detrimental mutations in the steroidogenic cytochrome P450 enzyme 21-hydroxylase (CYP21A2). Patients are dependent on a lifelong oral cortisol replacement therapy to ensure survival but quality of life is often reduced and co-morbidities are substantially increased. Also, the administered supraphysiological glucocorticoid dosescannot...

ea0070aep21 | Adrenal and Cardiovascular Endocrinology | ECE2020

Psychosocial determinants of body acceptance and quality of life in women with congenital adrenal hyperplasia

Tschaidse Lea , Quinkler Marcus , Nordenström Anna , Van Der Grinten Hedi Claahsene , Reisch Nicole

Background: Women with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency have a poor Quality of Life (QoL) compared to the general population and are less satisfied with their body appearance. Data indicates that psychosocial determinants such as good professional and general support could be associated with an improved QoL. Since there is only little data available that has been deduced from samples of small size this effect should be further examined....

ea0070aep70 | Adrenal and Cardiovascular Endocrinology | ECE2020

CAH-X Syndrome in a german cohort of patients with 21--hydroxylase deficiency

Sappl Andrea , Lottspeich Christian , Vill Katharina , Morak Monika , Bidlingmaier Martin , Reisch Nicole

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is encoded by the CYP21A2 gene. The CYP21A2 gene is partially overlapped by the TNXB gene encoding an extracellular matrix protein called Tenascin-X. Deficiency of Tenascin X can cause the Ehlers-Danlos Syndrome (EDS). Deletions of CYP21A2 extending into TNXB rarely cause CAH combined with EDS. CAH associated with mild hypermobility form of EDS due to TNXB haploinsufficiency caused by heterozygous mutation h...

ea0026p29 | Adrenal cortex | ECE2011

TP53 and adrenocortical cancer: analysis of germline mutations and polymorphic changes in 140 patients

Herrmann Leonie , Heinze Britta , Fassnacht Martin , Willenberg Holger , Quinkler Marcus , Reisch Nicole , Allolio Bruno , Hahner Stefanie

Adrenocortical carcinoma (ACC) is part of the Li-Fraumeni tumour syndrome which is due to germline mutations in TP53. Recent studies demonstrate low penetrance mutations leading to later tumour manifestation. Furthermore, in ACC mutations outside the hotspot region have been found. TP53-polymorphisms have also been described to impact on p53 function. We, therefore investigated TP53 sequence alterations in a large cohort of adult patients with ACC.Method...

ea0016p785 | Thyroid | ECE2008

Isolated ACTH deficiency as a cause of impaired well-being in patients with primary hypothyroidism

Bender Gwendolyn , Cromme Claudia , Hahner Stefanie , Arlt Wiebke , Luster Markus , Reisch Nicole , Reinke Martin , Allolio Bruno

Objective: Isolated ACTH-deficiency (IAD) is considered a rare autoimmune endocrinopathy most frequently associated with autoimmune thyroid diseases (ATD). We have previously diagnosed IAD in four patients with primary hypothyroidism and negative TPO antibodies. The aim of this study was to determine the prevalence of undiagnosed IAD in patients with ATD.Methods: We studied 45 patients with ATD on stable L-thyroxine replacement (dose range...

ea0073pep1.3 | Presented ePosters 1: Adrenal and Cardiovascular Endocrinology | ECE2021

Rationale for a reduced dexamethasone dosis in prenatal CAH therapy based on pharmacokinetic modelling

Reisch Nicole , Stachanow Viktoria , Neumann Uta , Blankenstein Oliver , Fuhr Uwe , Huisinga Wilhelm , Michelet Robin , Kloft Charlotte

ContextPrenatal dexamethasone (Dex) therapy is used in female foetuses with congenital adrenal hyperplasia (CAH) to suppress adrenal androgen excess and prevent virilisation of the external genitalia. The prenatal dexamethasone dose of 20 µg/kg per day has been used for decades in prenatal CAH and is associated with risks for the treated mother and potentially for the unborn child. Despite the high medical need, no prospective, clinical studies had ...

ea0073aep45 | Adrenal and Cardiovascular Endocrinology | ECE2021

The role of E47 in patients with endogenous cortisol excess

Zhang Wei , Nowotny Hanna F. , Zopp Stephanie , Bidlingmaier Martin , Reincke Martin , Uhlenhaut Henriette , Reisch Nicole

ContextE47 is a transcription factor mostly known for its role in B and T cell lineage commitment. Recently E47 was identified as a modulator of glucocorticoid receptor target genes, its loss protecting mice from metabolic adverse effects of glucocorticoids. Patients with Cushing’s syndrome (CS) suffer from an endogenous glucocorticoid excess due to tumour formation associated with a variety of metabolic comorbidities seriously affecting patients&#1...