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[Dysgenetic male pseudohermaphroditism].
Acta Med Port. 2001 Sep-Dec; 14(5-6):511-4.AM

Abstract

Dysgenetic male pseudohermaphroditism is the result of a defect of testis development that encompasses a large clinical heterogeneity. It is characterized by bilateral dysgenetic testis, absence of mullerian regression, ambiguous genitalia and/or stigmata of Turner's syndrome in the majority of the cases. Typically, these individuals have either a 46,XY or 45,X/46,XY karyotype. The authors present four cases of dysgenetic male psudohermaphroditism, with ages of diagnosis between 1 month and 17 years old. The first had a male phenotype with stigmata of Turner's syndrome and the others ambiguous genitalia. Two patients were 45,X/46,XY and 45X/47,XYY mosaics and the other two were 46,XY. Gonadal karyotyping showed mosaicism (45,X/46,XY) in all four cases. In the first case was programed orquidectomy; all the others assigned a male gender, with regular follow-up until the puberty.

Authors+Show Affiliations

Serviço de Cirurgia Pediátrica, Hospital Maria Pia, Porto.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

por

PubMed ID

11878163

Citation

Proença, E, et al. "[Dysgenetic Male Pseudohermaphroditism]." Acta Medica Portuguesa, vol. 14, no. 5-6, 2001, pp. 511-4.
Proença E, Freitas S, Fonseca M, et al. [Dysgenetic male pseudohermaphroditism]. Acta Med Port. 2001;14(5-6):511-4.
Proença, E., Freitas, S., Fonseca, M., Figueiredo, S., & Rodrigues, C. (2001). [Dysgenetic male pseudohermaphroditism]. Acta Medica Portuguesa, 14(5-6), 511-4.
Proença E, et al. [Dysgenetic Male Pseudohermaphroditism]. Acta Med Port. 2001 Sep-Dec;14(5-6):511-4. PubMed PMID: 11878163.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Dysgenetic male pseudohermaphroditism]. AU - Proença,E, AU - Freitas,S, AU - Fonseca,M, AU - Figueiredo,S, AU - Rodrigues,C, PY - 2002/3/7/pubmed PY - 2002/9/6/medline PY - 2002/3/7/entrez SP - 511 EP - 4 JF - Acta medica portuguesa JO - Acta Med Port VL - 14 IS - 5-6 N2 - Dysgenetic male pseudohermaphroditism is the result of a defect of testis development that encompasses a large clinical heterogeneity. It is characterized by bilateral dysgenetic testis, absence of mullerian regression, ambiguous genitalia and/or stigmata of Turner's syndrome in the majority of the cases. Typically, these individuals have either a 46,XY or 45,X/46,XY karyotype. The authors present four cases of dysgenetic male psudohermaphroditism, with ages of diagnosis between 1 month and 17 years old. The first had a male phenotype with stigmata of Turner's syndrome and the others ambiguous genitalia. Two patients were 45,X/46,XY and 45X/47,XYY mosaics and the other two were 46,XY. Gonadal karyotyping showed mosaicism (45,X/46,XY) in all four cases. In the first case was programed orquidectomy; all the others assigned a male gender, with regular follow-up until the puberty. SN - 0870-399X UR - https://www.unboundmedicine.com/medline/citation/11878163/[Dysgenetic_male_pseudohermaphroditism]_ L2 - http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1888/1461 DB - PRIME DP - Unbound Medicine ER -