etiology of PCOS is complex and unclear, recent studies reveal that androgens excess and endoplasmic reticulum (ER) stress play important roles in the progression and pathogenesis of PCOS ( 7 , 8 , 9 ). Clinical studies showed that hyperandrogenism is
Bo Zhu, Yumei Chen, Fang Xu, Xiaolu Shen, Xuanyu Chen, Jieqiang Lv, and Songying Zhang
Monica F Stecchini, Zilda Braid, Candy B More, Davi C Aragon, Margaret Castro, Ayrton C Moreira, and Sonir R Antonini
, but that may be related to the skeletal maturation induced by androgen excess ( 2 ). The development of secondary CPP has been extensively reported in patients with lately diagnosed or poorly controlled congenital adrenal hyperplasia (CAH), and other
Jana Ernst, Katharina Gert, Frank Bernhard Kraus, Ulrike Elisabeth Rolle-Kampczyk, Martin Wabitsch, Faramarz Dehghani, and Kristina Schaedlich
endocrine dysregulations, an environmental exposure to androgens exists due to the prevalent contamination of surface water and groundwater ( 11 , 12 , 13 ). Androgen excess during early development is hypothesized to program metabolic abnormalities in
Katica Bajuk Studen and Marija Pfeifer
serum testosterone and androstenedione represents a useful tool for predicting metabolic risk in PCOS women. A recent study has shown that serum androstenedione was a more sensitive indicator of PCOS-related androgen excess than serum total testosterone
Luigi Laino, Silvia Majore, Nicoletta Preziosi, Barbara Grammatico, Carmelilia De Bernardo, Salvatore Scommegna, Anna Maria Rapone, Giacinto Marrocco, Irene Bottillo, and Paola Grammatico
Testicular DSDs Gonadal dysgenesis DSD 46,XX androgen excess Fetal 21 hydroxylase deficiency Fetal 11 hydroxylase deficiency Fetoplacental aromatase deficiency Maternal luteoma Exogenous androgen excess DSD 46,XX other MURCS, MRKH, and other syndromes DSD 46
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.
Nancy J Olsen, Ann L Benko, and William J Kovacs
hormonal excess or deficiency states. Inherited variation in the androgen receptor ( AR ) gene affects androgen action. Deleterious mutations in AR can result in syndromes ranging from mild abnormalities to total failure of normal male phenotypic
Stavroula A Paschou, Eleni Palioura, Dimitrios Ioannidis, Panagiotis Anagnostis, Argyro Panagiotakou, Vasiliki Loi, Georgios Karageorgos, Dimitrios G Goulis, and Andromachi Vryonidou
adrenal) androgen on the metabolic profile of women with PCOS has not yet been clarified. The presence of adrenal androgen excess, expressed by elevated DHEA-S concentrations, has been postulated to contribute to a favorable metabolic ( 9 , 10 , 11
Sebastião Freitas de Medeiros, Cinthia Marenza Ormond, Matheus Antônio Souto de Medeiros, Nayara de Souza Santos, Camila Regis Banhara, and Márcia Marly Winck Yamamoto
. Acknowledgement The authors are grateful to Ellen Cristina Vieira Alves for English language revision. References 1 Azziz R Sanchez LA Knochenhauer ES Moran C Lazenby J Stephens KC Taylor K Boots LR. Androgen excess in
Milène Tetsi Nomigni, Sophie Ouzounian, Alice Benoit, Jacqueline Vadrot, Frédérique Tissier, Sylvie Renouf, Hervé Lefebvre, Sophie Christin-Maitre, and Estelle Louiset
. Prevalence of adrenal androgen excess in patients with the polycystic ovary syndrome (PCOS) . Clinical Endocrinology 2005 62 644 – 649 . ( doi:10.1111/j.1365-2265.2005.02256.x ). 2 Somani N Harrison S Bergfeld WF