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Murviel-lès-Montpellier, France

Soyer-Gobillard M.-O.,French National Center for Scientific Research | Paris F.,Unite dEndocrinologie Gynecologie Pediatrique | Gaspari L.,Unite dEndocrinologie Gynecologie Pediatrique | Courtet P.,Montpellier University Hospital Center | Sultan C.,Unite dEndocrinologie Gynecologie Pediatrique
Gynecological Endocrinology | Year: 2016

In utero diethylstilbestrol (DES) exposure has been demonstrated to be associated with somatic abnormalities in adult men and women. Conversely, the data are contradictory regarding the association with psychological or psychiatric disorders during adolescence and adulthood. This work was designed to determine whether prenatal exposure to DES affects brain development and whether it is associated with psychiatric disorders in male and female adolescents and young adults. HHORAGES Association, a national patient support group, has assembled a cohort of 1280 women who took DES during pregnancy. We obtained questionnaire responses from 529 families, corresponding to 1182 children divided into three groups: Group 1 (n = 180): firstborn children without DES treatment, Group 2 (n = 740): exposed children, and Group 3 (n = 262): children born after a previous pregnancy treated by DES. No psychiatric disorders were reported in Group 1. In Group 2, the incidence of disorders was drastically elevated (83.8%), and in Group 3, the incidence was still elevated (6.1%) compared with the general population. This work demonstrates that prenatal exposure to DES is associated with a high risk of psychiatric disorders in adolescence and adulthood. © 2015 Informa UK Ltd.

Gaspari L.,Unite dEndocrinologie Gynecologie Pediatrique | Gaspari L.,Montpellier University Hospital Center | Paris F.,Unite dEndocrinologie Gynecologie Pediatrique | Paris F.,Montpellier University Hospital Center | And 8 more authors.
European Journal of Endocrinology | Year: 2011

Objective: 46,XY disorders of sex differentiation (46,XY DSD) can be due to a testis determination defect, an androgen biosynthesis defect, or androgen resistance (complete or partial androgen insensitivity syndrome (PAIS), or 5α reductase deficiency). We aimed to evaluate the impact of a prenatal contamination by environmental xenoestrogens in 'idiopathic' PAIS-like phenotype. Subjects: We investigated 28 newborn/infant males with 46,XY DSD, normal androgen production, and no androgen receptor or steroid-5αR type II enzyme (SRD5A2) gene mutations. Methods: To exclude other genetic defects, we sequenced the steroidogenic factor 1 (SF1) and mastermind-like domain-containing 1 (MAMLD1) genes, which were recently found to be associated with the PAIS-like phenotype. Parents were interviewed about their environmental/occupational exposure to endocrine disrupting chemicals (EDCs) before/during the patients' fetal life. Total estrogenic bioactivity of patient serum was analyzed by ultrasensitive bioassay. Results: All the patients had normal SF1 sequence and one patient showed a double polymorphism of MAMLD1. Eleven (39.3%) of the 28 patients had reported parental fetal exposure to EDCs. The mean estrogenic bioactivity in these 11 patients with fetal EDC exposure (6.65±8.07 pg/ml) versus 17 cases without contamination (1.27±0.34 pg/ml) and controls (1.06±0.44 pg/ml; P<0.05) was elevated. Conclusions: Our results indicate that the 'idiopathic' PAIS-like phenotype may in some cases be related to EDC contamination during fetal life. © 2011 European Society of Endocrinology.

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