Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor
-
Rafael Loch Batista
,
Andresa De Santi Rodrigues
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.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: Grants 305743/2011 (CNPQ) and 2013/02162-8 (Fundação de Amparo a Pesquisa do estado de Sao Paulo – FAPESP).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
- Frontmatter
- Review
- The role of corticosteroid-binding globulin in the evaluation of adrenal insufficiency
- Original Articles
- Association of sodium intake with insulin resistance in Korean children and adolescents: the Korea National Health and Nutrition Examination Survey 2010
- Decrease in serum chemerin through aerobic exercise plus dieting and its association with mitigation of cardio-metabolic risk in obese female adolescents
- Ultrasonographic assessment of pubertal breast development in obese children: compliance with the clinic
- Associations of leptin, insulin and lipids with retinal microvasculature in children and adolescents
- Association of cord blood ghrelin, leptin and insulin concentrations in term newborns with anthropometric parameters at birth
- Management of thyrotoxicosis in children and adolescents: 35 years’ experience in 304 patients
- Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience
- Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty
- Reference centile curves for wrist circumference for Indian children aged 3–18 years
- Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion
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- Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease
- Improved medical-alert ID ownership and utilization in youth with congenital adrenal hyperplasia following a parent educational intervention
- Letter to the Editor
- Identification of five mutations in a patient with galactose metabolic disorders
- Case Reports
- Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor
- Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency
- Insulin-mediated pseudoacromegaly: a report of two pediatric patients
- Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
Articles in the same Issue
- Frontmatter
- Review
- The role of corticosteroid-binding globulin in the evaluation of adrenal insufficiency
- Original Articles
- Association of sodium intake with insulin resistance in Korean children and adolescents: the Korea National Health and Nutrition Examination Survey 2010
- Decrease in serum chemerin through aerobic exercise plus dieting and its association with mitigation of cardio-metabolic risk in obese female adolescents
- Ultrasonographic assessment of pubertal breast development in obese children: compliance with the clinic
- Associations of leptin, insulin and lipids with retinal microvasculature in children and adolescents
- Association of cord blood ghrelin, leptin and insulin concentrations in term newborns with anthropometric parameters at birth
- Management of thyrotoxicosis in children and adolescents: 35 years’ experience in 304 patients
- Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience
- Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty
- Reference centile curves for wrist circumference for Indian children aged 3–18 years
- Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion
- Genetic mutations associated with neonatal diabetes mellitus in Omani patients
- Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease
- Improved medical-alert ID ownership and utilization in youth with congenital adrenal hyperplasia following a parent educational intervention
- Letter to the Editor
- Identification of five mutations in a patient with galactose metabolic disorders
- Case Reports
- Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor
- Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency
- Insulin-mediated pseudoacromegaly: a report of two pediatric patients
- Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
