Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
Phyllis W. Speiser,Ricardo Azziz,Laurence S. Baskin,Lucia Ghizzoni,Terry W. Hensle,Deborah P. Merke,Heino F. L. Meyer-Bahlburg,Walter L. Miller,Victor M. Montori,Sharon E. Oberfield,Martin Ritzén,Perrin C. White +11 more
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TLDR
Clinical practice guidelines for congenital adrenal hyperplasia (CAH) recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests and recommend judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH.Abstract:
Objective: We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH).
Participants: The Task Force included a chair, selected by The Endocrine Society Clinical Guidelines Subcommittee (CGS), ten additional clinicians experienced in treating CAH, a methodologist, and a medical writer. Additional experts were also consulted. The authors received no corporate funding or remuneration.
Consensus Process: Consensus was guided by systematic reviews of evidence and discussions. The guidelines were reviewed and approved sequentially by The Endocrine Society’s CGS and Clinical Affairs Core Committee, members responding to a web posting, and The Endocrine Society Council. At each stage, the Task Force incorporated changes in response to written comments.
Conclusions: We recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests. We recommend that prenatal treatment of CAH continue to be regarded as experimental. The diagnosis rests on clinical and hormonal data; genotyping is reserved for equivocal cases and genetic counseling. Glucocorticoid dosage should be minimized to avoid iatrogenic Cushing’s syndrome. Mineralocorticoids and, in infants, supplemental sodium are recommended in classic CAH patients. We recommend against the routine use of experimental therapies to promote growth and delay puberty; we suggest patients avoid adrenalectomy. Surgical guidelines emphasize early single-stage genital repair for severely virilized girls, performed by experienced surgeons. Clinicians should consider patients’ quality of life, consulting mental health professionals as appropriate. At the transition to adulthood, we recommend monitoring for potential complications of CAH. Finally, we recommend judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH.read more
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Standards of Care for the Health of Transsexual, Transgender, and Gender-Nonconforming People, Version 7
Eli Coleman,Walter O. Bockting,M. Botzer,Peggy T. Cohen-Kettenis,G. DeCuypere,Jamie L Feldman,Lin Fraser,Jennifer B. Green,Gail Knudson,Walter J. Meyer,Stan Monstrey,R. K. Adler,George R. Brown,Aaron Devor,R. Ehrbar,Randi Ettner,E. Eyler,Robert Garofalo,Dan H. Karasic,A. I. Lev,G. Mayer,Heino F. L. Meyer-Bahlburg,B. P. Hall,F. Pfaefflin,Katherine Rachlin,Beatrice “Bean” E. Robinson,Loren S. Schechter,Vin Tangpricha,M. van Trotsenburg,A. Vitale,Sam Winter,Stephen Whittle,Kevan Wylie,Kenneth J. Zucker +33 more
TL;DR: This version of the SOC recognizes that treatment for gender dysphoria has become more individualized, and can be used to help patients consider the full range of health services open to them, in accordance with their clinical needs and goals for gender expression.
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The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders.
TL;DR: Understanding steroidogenesis is of fundamental importance to understanding disorders of sexual differentiation, reproduction, fertility, hypertension, obesity, and physiological homeostasis.
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Diagnosis and treatment of polycystic ovary syndrome: an Endocrine Society clinical practice guideline.
Richard S. Legro,Silva A. Arslanian,David A. Ehrmann,Kathleen M. Hoeger,M. Hassan Murad,Renato Pasquali,Corrine K. Welt +6 more
TL;DR: Evaluation of women with PCOS should exclude alternate androgen-excess disorders and risk factors for endometrial cancer, mood disorders, obstructive sleep apnea, diabetes, and cardiovascular disease.
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Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline.
Stefan R. Bornstein,Bruno Allolio,Wiebke Arlt,Andreas Barthel,Andrew C. Don-Wauchope,Gary D. Hammer,Eystein S. Husebye,Deborah P Merke,M. Hassan Murad,Constantine A. Stratakis,David J. Torpy +10 more
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The Diagnosis of Polycystic Ovary Syndrome during Adolescence
Selma F. Witchel,S E Oberfield,Robert L. Rosenfield,Ethel Codner,Andrea E. Bonny,Lourdes Ibáñez,Alexia S Peña,Reiko Horikawa,Veronica Gomez-Lobo,Dipesalema Joel,Hala Tfayli,Silva A. Arslanian,Preeti Dabadghao,Cecilia Garcia Rudaz,Peter A. Lee +14 more
TL;DR: While obesity, insulin resistance, and hyperinsulinemia are common findings in adolescents with hyperandrogenism, these features should not be used to diagnose PCOS among adolescent girls.
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