| Full text | |
| Author(s): |
Batista, Rafael Loch
[1]
;
Rodrigues, Andresa De Santi
[2]
;
Machado, Aline Zamboni
[2]
;
Nishi, Mirian Yumie
[2]
;
Cunha, Flavia Siqueira
[2]
;
Silva, Rosana Barbosa
[2]
;
Costa, Elaine M. F.
[2]
;
Mendonca, Berenice B.
[2]
;
Domenice, Sorahia
[2]
Total Authors: 9
|
| Affiliation: | [1] Univ Sao Paulo, Fac Med, Disciplina Endocrinol & Metabol Hosp Clin, Lab Hormonios Genet Mol LIM 42, Unidade Endocrinol, Av Dr Eneas Carvalho Aguiar 155, 7 Andar, BR-05403900 Sao Paulo, SP - Brazil
[2] Univ Sao Paulo, Fac Med, Hosp Clin, Disciplina Endocrinol & Metabol, Lab Hormonios Genet Mol LIM42, Unidade Endocrinol, Sao Paulo - Brazil
Total Affiliations: 2
|
| Document type: | Journal article |
| Source: | JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM; v. 31, n. 2, p. 223-228, FEB 2018. |
| Web of Science Citations: | 5 |
| Abstract | |
Background: Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46, XY disorders of sex development (DSDs), and it is an X-linked disorder caused by mutations in the androgen receptor (AR) gene. AIS patients present a broad phenotypic spectrum and individuals with a partial phenotype present with different degrees of undervirilized external genitalia. There are more than 500 different AR gene allelic variants reported to be linked to AIS, but the presence of somatic mosaicisms has been rarely identified. In the presence of a wild-type AR gene, a significant degree of spontaneous virilization at puberty can be observed, and it could influence the gender assignment, genetic counseling and the clinical and psychological management of these patients and the psychosexual outcomes of these patients are not known. Case presentation: In this study, we report two patients with AR allelic variants in heterozygous (c.382G>T and c.1769-1G>C) causing a partial AIS (PAIS) phenotype. The first patient was raised as female and she had undergone a gonadectomy at puberty. In both patients there was congruency between gender of rearing and gender identity and gender role. Conclusions: Somatic mosaicism is rare in AIS and nonsense AR variant allelic can cause partial AIS phenotype in this situation. Despite the risk of virilization and prenatal androgen exposure, the gender identity and gender role was concordant with sex of rearing in both cases. A better testosterone response can be expected in male individuals and this should be considered in the clinical management. (AU) | |
| FAPESP's process: | 13/02162-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine |
| Grantee: | Berenice Bilharinho de Mendonça |
| Support Opportunities: | Research Projects - Thematic Grants |