regulation of precursors of androgens and other steroid hormones within the steroid metabolome encompassing glucocorticoids, mineralocorticoids and estrogens is largely unknown in PCOS. Although PCOS has frequently been reported in adolescents, the
Thomas Reinehr, Alexandra Kulle, Juliane Rothermel, Caroline Knop-Schmenn, Nina Lass, Christina Bosse, and Paul-Martin Holterhus
Aneta Gawlik, Michael Shmoish, Michaela F Hartmann, Stefan A Wudy, Zbigniew Olczak, Katarzyna Gruszczynska, and Ze’ev Hochberg
-transformed concentrations of steroid metabolites (androgens, glucocorticoids and mineralocorticoids) in liver diseases (L1) and with non-liver disease features (L0) patients. Table 3 Ratio of steroid metabolites (enzyme activity): differences between patients
Lukas Engler, Christian Adolf, Daniel A Heinrich, Anna-Katharine Brem, Anna Riester, Anna Franke, Felix Beuschlein, Martin Reincke, Axel Steiger, and Heike Künzel
affected than males ( 1 ). These patients were also found to have a lower quality of life (QoL) even after treatment with either a mineralocorticoid receptor (MR) antagonist or adrenalectomy (ADX) ( 2 ). Cognitive deficits are prevalent in depression ( 3
Tatiana V Novoselova, Peter J King, Leonardo Guasti, Louise A Metherell, Adrian J L Clark, and Li F Chan
rare autosomal recessive condition clinically characterised by isolated glucocorticoid deficiency in the presence of normal mineralocorticoid function. FGD was first reported in two siblings diagnosed with Addison’s disease without hypoaldosteronism
Marieke Stientje Velema, Aline de Nooijer, Ad R M M Hermus, Henri J L M Timmers, Jacques W M Lenders, Olga Husson, and Jaap Deinum
unilateral aldosterone hypersecretion is suspected (APA), patients generally undergo adrenalectomy (ADX). Patients with BAH receive a mineralocorticoid receptor antagonist (MRA). Over the last decade, there has been increasing interest in the patient
Frans H H Leenen, Mordecai P Blaustein, and John M Hamlyn
, more slowly acting, signaling mechanism is also being activated that amplifies and maintains downstream responses. Several lines of evidence indicate that a slow-acting neuromodulatory pathway involving aldosterone, mineralocorticoid receptors (MR
Hiren Patt, Katrin Koehler, Sailesh Lodha, Swati Jadhav, Chaitanya Yerawar, Angela Huebner, Kunal Thakkar, Sneha Arya, Sandhya Nair, Manjunath Goroshi, Hosahithlu Ganesh, Vijaya Sarathi, Anurag Lila, Tushar Bandgar, and Nalini Shah
simultaneously elevated plasma adrenocorticotropic hormone (ACTH) (>2-fold above the upper limit of the reference interval for the specific assay) ( 7 ). Mineralocorticoid (MC) deficiency was defined as elevated (>upper limit of normal for age) plasma renin
Heike Hoyer-Kuhn, Angela Huebner, Annette Richter-Unruh, Markus Bettendorf, Tilman Rohrer, Klaus Kapelari, Stefan Riedl, Klaus Mohnike, Helmuth-Günther Dörr, Friedrich-Wilhelm Roehl, Katharina Fink, Reinhard W Holl, and Joachim Woelfle
Objective: Treatment in classic congenital adrenal hyperplasia (CAH) is necessary to compensate for glucocorticoid/mineralocorticoid deficiencies and to suppress androgen excess. Hydrocortisone (HC) is preferred in growing children with classic CAH, but recommendations regarding dosage/administration are inconsistent. Aim of the study was to evaluate HC dosing in children with CAH in relation to chronological age, sex, and phenotype based on a multicentre CAH registry.
Design: The CAH registry was initiated in 1997 by the AQUAPE in Germany. On December 31st 2018, data from 1571 patients were included.
Methods: A custom-made electronic health record software is used at the participating centres. Pseudonymized data are transferred for central analysis. Parameters were selected based on current guidelines. Descriptive analyses and linear regression models were implemented with SAS 9.4.
Results: We identified 1288 patients on exclusive treatment with hydrocortisone three times daily (604 boys; median age 7.2 years; 817 salt-wasting phenotype, 471 simple-virilizing phenotype). The mean [lower-upper quartiles] daily HC dose [mg/m² body surface area] was 19.4 [18.9-19.8] for patients <3 months (n=329), 15.0 [14.6-15.3] age ≥3-12 months (n=463), 14.0 [13.7-14.3] age 1-5.9 years (n=745), 14.2 [14.0-14.5] age 6 years-puberty entry (n=669), and 14.9 [14.6-15.2] during puberty-18 years (n=801). Fludrocortisone was administered in 74.1% of patients (median daily dosage 88.8 µg).
Conclusion: Our analyses demonstrated still a high proportion of children with HC doses higher than recommended. This evaluation provides comprehensive information on nationwide hydrocortisone substitution dosages in children with CAH underlining the benefit of systematic data within a registry to assess daily practice.
Lia Ferreira, João Silva, Susana Garrido, Carlos Bello, Diana Oliveira, Hélder Simões, Isabel Paiva, Joana Guimarães, Marta Ferreira, Teresa Pereira, Rita Bettencourt-Silva, Ana Filipa Martins, Tiago Silva, Vera Fernandes, Maria Lopes Pereira, and Adrenal Tumors Study Group of the Portuguese Society of Endocrinology
, particularly regarding diagnosis, aetiology, concomitant autoimmune disorders, family history and replacement regimens, such as the type, daily dosage and dose frequency of glucocorticoids, as well as the use of mineralocorticoids. We assessed the occurrence of
Marianne Aa Grytaas, Kjersti Sellevåg, Hrafnkell B Thordarson, Eystein S Husebye, Kristian Løvås, and Terje H Larsen
adrenalectomy in unilateral PA and medical treatment with mineralocorticoid receptor antagonists in bilateral PA. Several studies have demonstrated that PA patients have increased cardiovascular and renal morbidity compared with patients with essential HT ( 5