Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

被引：466

作者：

Lee, Peter A. ^{[1
]}

Nordenstrom, Anna ^{[2
]}

Houk, Christopher P. ^{[3
]}

Ahmed, S. Faisal ^{[4
]}

Auchus, Richard ^{[5
]}

Baratz, Arlene ^{[6
]}

Dalke, Katharine Baratz ^{[7
]}

Liao, Lih-Mei ^{[8
]}

Lin-Su, Karen ^{[9
]}

Looijenga, Leendert H. J., III ^{[10
]}

Mazur, Tom ^{[11
]}

Meyer-Bahlburg, Heino F. L. ^{[12
,13
]}

Mouriquand, Pierre ^{[14
]}

Quigley, Charmian A. ^{[6
,15
]}

Sandberg, David E. ^{[16
]}

Vilain, Eric ^{[17
]}

Witchel, Selma ^{[18
]}

机构：

[1] Penn State Coll Med, Dept Pediat, Hershey, PA USA

[2] Karolinska Inst, Karolinska Univ Hosp, Womens & Childrens Hlth, Stockholm, Sweden

[3] Georgia Regents Univ, Dept Pediat, Augusta, GA USA

[4] Univ Glasgow, Sch Med, Paediat Endocrinol, Glasgow, Lanark, Scotland

[5] Univ Michigan Hlth Syst, DSD Program, Metab Endocrinol & Diabet, Ann Arbor, MI USA

[6] Androgen Insensit Syndrome Differences Sex Dev Su, Duncan, OK USA

[7] Univ Penn, Sch Med, Dept Psychiat, Philadelphia, PA 19104 USA

[8] Univ Coll London Hosp, Womens Hlth Div, London, England

[9] Weill Cornell Med Ctr, Pediat Endocrinol, New York, NY USA

[10] Erasmus MC Univ Med Ctr, Dept Pathol, Rotterdam, Netherlands

[11] SUNY Buffalo, Dept Psychiat & Pediat, Sch Med & Biomed Sci, Buffalo, NY 14260 USA

[12] New York State Psychiat Inst & Hosp, New York, NY 10032 USA

[13] Columbia Univ, Coll Phys & Surg, Dept Psychiat, New York, NY 10032 USA

[14] Univ Lyon 1, Pediat Urol, Hosp Civils Lyon, F-69365 Lyon, France

[15] Indiana Univ Sch Med, Indianapolis, IN 46202 USA

[16] Univ Michigan, Pediat Psychol Pediat & Child Hlth Evaluat & Res, Ann Arbor, MI 48109 USA

[17] Univ Calif Los Angeles, Human Genet Pediat & Urol, Los Angeles, CA USA

[18] Univ Pittsburgh, Childrens Hosp Pittsburgh, Sch Med, Endocrinol & Diabet, Pittsburgh, PA USA

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2016年 / 85卷 / 03期

关键词：

Disorders of sex development; Intersex; Ambiguous genitalia; CONGENITAL ADRENAL-HYPERPLASIA; ANTI-MULLERIAN HORMONE; SHARED DECISION-MAKING; QUALITY-OF-LIFE; AMBIGUOUS GENITALIA; DEVELOPMENT DSD; SURGICAL-MANAGEMENT; INTERSEX CONDITIONS; ANDROGEN EXPOSURE; CLOACAL EXSTROPHY;

D O I：

10.1159/000442975

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to address changes in the clinical approach since the 2005 Consensus Conference, since knowledge and viewpoints change. An effort was made to include representatives from a broad perspective including support and advocacy groups. The goal of patient care is focused upon the best possible quality of life (QoL). The field of DSD is continuously developing. An update on the clinical evaluation of infants and older individuals with ambiguous genitalia including perceptions regarding male or female assignment is discussed. Topics include biochemical and genetic assessment, the risk of germ cell tumor development, approaches to psychosocial and psychosexual well-being and an update on support groups. Open and on-going communication with patients and parents must involve full disclosure, with the recognition that, while DSD conditions are life-long, enhancement of the best possible outcome improves QoL. The evolution of diagnosis and care continues, while it is still impossible to predict gender development in an individual case with certainty. Such decisions and decisions regarding surgery during infancy that alters external genital anatomy or removes germ cells continue to carry risk. (C) 2016 S. Karger AG, Basel

引用

页码：158 / 180

页数：23

共 111 条

[1] Ambiguous genitalia: What prenatal genetic testing is practical? [J].

Adam, Margaret P. ;

Fechner, Patricia Y. ;

Ramsdell, Linda A. ;

Badaru, Angela ;

Grady, Richard E. ;

Pagon, Roberta A. ;

McCauley, Elizabeth ;

Cheng, Edith Y. ;

Parisi, Melissa A. ;

Shnorhavorian, Margarett .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (06) :1337-1343

[2] UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development [J].

Ahmed, S. Faisal ;

Achermann, John C. ;

Arl, Wiebke ;

Balen, Adam H. ;

Conway, Gerry ;

Edwards, Zoe L. ;

Elford, Sue ;

Hughes, Ieuan A. ;

Izatt, Louise ;

Krone, Nils ;

Miles, Harriet L. ;

O'Toole, Stuart ;

Perry, Les ;

Sanders, Caroline ;

Simmonds, Margaret ;

Wallace, A. Michael ;

Watt, Andrew ;

Willis, Debbie .

CLINICAL ENDOCRINOLOGY, 2011, 75 (01) :12-26

[3] Fear of devaluation: Understanding the experience of intersexed women with androgen insensitivity syndrome [J].

Alderson, J ;

Madill, A ;

Balen, A .

BRITISH JOURNAL OF HEALTH PSYCHOLOGY, 2004, 9 :81-100

[4]

American Psychiatric Association A. Association A.P, 2013, Diagnostic and Statistical Manual of Mental Disorders, DOI [DOI 10.1176/APPI.BOOKS.9780890425596, DOI 10.1176/APPI.BOOKS.9780890425596.744053]

[5]

[Anonymous], STANDARDS CARE HLTH

[6]

[Anonymous], 2013, Mental health action plan 2013 - 2020

[7]

[Anonymous], 2021, COMMDH202132

[8] DSDs: genetics, underlying pathologies and psychosexual differentiation [J].