Complete Androgen Insensitivity Syndrome Associated with Male Gender Identity or Female Precocious Puberty in the Same Family

被引：12

作者：

Bermudez de la Vega, Jose Antonio ^{[1
]}

Fernandez-Cancio, Monica ^{[3
]}

Bernal, Susana ^{[2
]}

Audi, Laura ^{[3
]}

机构：

[1] Virgen Macarena Univ Hosp, Dept Paediat, Paediat Endocrinol, ES-41007 Seville, Spain

[2] Virgen del Rocio Childrens Univ Hosp, Dept Internal Med, Seville, Spain

[3] Autonomous Univ Barcelona, Ctr Biomed Res Network Rare Dis CIBERER, Vall dHebron Res Inst VHIR, Paediat Endocrinol, Barcelona, Spain

来源：

SEXUAL DEVELOPMENT | 2015年 / 9卷 / 02期

关键词：

Complete androgen insensitivity syndrome; Male gender identity; Precocious puberty; RECEPTOR GENE-MUTATIONS; DYSPHORIA QUESTIONNAIRE; SEX DEVELOPMENT; GROWTH; BONE; ADOLESCENTS; ESTROGENS; HEIGHT; ADULTS;

D O I：

10.1159/000371617

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

In 4 complete androgen insensitivity syndrome (CAIS) members of one family, 2 presented extreme and unusual clinical features: male gender identity disorder (case 1) and female precocious central puberty (case 2). The AR gene carried the mutation c. 1752C>G, p.Phe584Leu. Gender dysphoria in CAIS may be considered as a true transgender and has been described in 3 other cases. Central precocious puberty has only been described in 1 case; Mullerain ducts in case 2 permitted menarche. Despite the common CAIS phenotype, there was a familial disparity for gender identity adequacy and timing and type of puberty. (C) 2015 S. Karger AG, Basel

引用

页码：75 / 79

页数：5

共 50 条

[1] Male Gender Identity in Complete Androgen Insensitivity Syndrome
T'Sjoen, Guy
De Cuypere, Griet
Monstrey, Stan
Hoebeke, Piet
Freedman, F. Kenneth
Appari, Mahesh
Holterhus, Paul-Martin
Van Borsel, John
Cools, Martine
ARCHIVES OF SEXUAL BEHAVIOR, 2011, 40 (03) : 635 - 638
[2] Male Gender Identity in Complete Androgen Insensitivity Syndrome
Guy T’Sjoen
Griet De Cuypere
Stan Monstrey
Piet Hoebeke
F. Kenneth Freedman
Mahesh Appari
Paul-Martin Holterhus
John Van Borsel
Martine Cools
Archives of Sexual Behavior, 2011, 40 : 635 - 638
[3] Male Gender Identity in Complete Androgen Insensitivity Syndrome.
T'Sjoen, G. G. R.
De Cuypere, G.
Monstrey, S.
Hoebeke, P.
Freedman, F. K.
Van Borsel, J.
Cools, M.
ENDOCRINE REVIEWS, 2010, 31 (03)
[4] Apparent Male Gender Identity in a Patient with Complete Androgen Insensitivity Syndrome
Bindu Kulshreshtha
Pascal Philibert
Marumudi Eunice
Sudhir K. Khandelwal
Manju Mehta
Françoise Audran
Françoise Paris
Charles Sultan
Ariachery C. Ammini
Archives of Sexual Behavior, 2009, 38 : 873 - 875
[5] Apparent Male Gender Identity in a Patient with Complete Androgen Insensitivity Syndrome
Kulshreshtha, Bindu
Philibert, Pascal
Eunice, Marumudi
Khandelwal, Sudhir K.
Mehta, Manju
Audran, Francoise
Paris, Francoise
Sultan, Charles
Ammini, Ariachery C.
ARCHIVES OF SEXUAL BEHAVIOR, 2009, 38 (06) : 873 - 875
[6] Gender Identity in Individuals with Complete Androgen Insensitivity Syndrome
Kerstin, Huber
Maike, Fliegner
Lisa, Junger
Hertha, Richter-Appelt
JOURNAL OF PSYCHOSOMATIC OBSTETRICS AND GYNECOLOGY, 2010, 31 : 45 - 45
[7] Puberty in subjects with complete androgen insensitivity syndrome
Papadimitriou, DT
Linglart, A
Morel, Y
Chaussain, JL
HORMONE RESEARCH, 2006, 65 (03) : 126 - 131
[8] Syndrome of complete androgen insensitivity with female phanotype
Bishani, A.
Pretzsch, G.
Bokhua, D.
Runnebaum, I. B.
GEBURTSHILFE UND FRAUENHEILKUNDE, 2023, 83 (06) : E25 - E25
[9] FETAL FEMINIZATION AND FEMALE GENDER IDENTITY IN TESTICULAR FEMINIZING SYNDROME OF ANDROGEN INSENSITIVITY
MASICA, DN
MONEY, J
EHRHARDT, AA
ARCHIVES OF SEXUAL BEHAVIOR, 1971, 1 (02) : 131 - 142
[10] A Case of Mistaken Identity: Complete Androgen Insensitivity Syndrome
Moores, Penelope
Rashid, Mumtaz
ULTRASOUND, 2009, 17 (03) : 153 - 155

← 1 2 3 4 5 →