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Complete androgen insensitivity syndrome with accelerated onset of puberty due to a Sertoli cell tumor.

ABSTRACT: Complete androgen insensitivity syndrome (CAIS) is caused by mutations in the androgen receptor gene. Patients with this syndrome have a 46,XY karyotype, male gonads, and normal female external genitalia. While the pre-pubertal risk of developing gonadal tumors is low in these patients, it increases with age. Most gonadal tumors arise from germ cells; stromal cell tumors are uncommon. Herein, we report a CAIS patient with a feminizing Sertoli cell tumor. The patient presented at 8 yr of age with breast enlargement and growth acceleration, concomitant with elevated serum estradiol levels and suppressed serum gonadotropin levels; these findings were inconsistent with CAIS. The patient underwent gonadectomy at 10 yr of age, and histology demonstrated presence of a non-malignant Sertoli cell tumor in the right gonad. We conclude that this is the first reported case of CAIS with accelerated onset of puberty resulting from a Sertoli cell tumor.

SUBMITTER: Izawa M

PROVIDER: S-EPMC8022032 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices.

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46,XY sex reversed females with complete androgen insensitivity syndrome

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2007-10-20 | GSE6797 | GEO

46,XY sex reversed females with complete androgen insensitivity syndrome

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Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree.

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Project description:We analysed three interesting, rare cases of CAIS (Complete Androgen Insensitivity Syndrome) and report three hitherto undisclosed causes of the disease. Comparative RNA-Seq analysis of CAIS and control samples (3 testicular oligobiopsies from men with normal spermatogenesis) revealed 4,293 significantly deregulated genes.

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Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics.

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Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome.

Project description:Androgens are essential for normal male sex differentiation and are responsible for the normal development of male secondary sexual characteristics at puberty. The physiological effects of androgens are mediated by the androgen receptor (AR). Mutations in the AR gene are the most common cause of androgen insensitivity syndrome. The present study undertook a genetic analysis of the AR gene in two unrelated families affected by complete androgen insensitivity syndrome (CAIS) in China. In family 1, a previously reported nonsense mutation (G-to-A; p.W751X) was identified in exon 5 of the AR gene. In addition, a novel missense mutation was detected in exon 6 of the AR gene from family 2; this mutation resulted in a predicted amino acid change from phenylalanine to serine at codon 804 (T-to-C; p.F804S) in the ligand-binding domain (LBD) of AR. Computer simulation of the structural changes generated by the p.F804S substitution revealed marked conformational alterations in the hydrophobic core responsible for the stability and function of the AR-LBD. In conclusion, the present study identified two mutations from two unrelated Chinese families affected by CAIS. The novel mutation (p.F804S) may provide insights into the molecular mechanism underlying CAIS. Furthermore, it expands on the number of mutational hot spots in the international AR mutation database, which may be useful in the future for prenatal diagnosis and genetic counseling.

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