Síndrome de insensibilidad androgénica. A propósito de un caso clínico

Patricia Moreira Aguirre

doi:10.47464/MetroCiencia/vol28/1/2020/40-47

Authors

Patricia Moreira Aguirre Hospital Clínica San Agustín https://orcid.org/0000-0002-4522-0782

DOI:

https://doi.org/10.47464/MetroCiencia/vol28/1/2020/40-47

Keywords:

Androgen insensitivity syndrome, inguinal hernia, karyotype

Abstract

Androgen insensitivity síndrome (AIS) is one of the causes of abnormalities in sexual differentiation (different sexual development). SIA is an X-linked genetic condition caused by an androgen receptor disorder, associated with vaginal and uterine agenesis, and the presence of testicles in women with an XY karyotype. Parents with 12-day-old neonates go to medical consultation. The reason for consultation is a mass in the right inguinal region. On physical examination: normal vital signs, active on management, reactive. A mass is observed at the level of the right inguinal region of approximately 2 cm in diameter, reducible and not painful. Female external genital with normal characteristics. The patient is referred for surgery to correct hernia defect. A cytogenetic study and blood hormone leves are indicated. Seven days after the intervention, parents came with the results of the postoperative pathological study: testicular gonadal tissue with áreas of vascular congestion and focal hemorrhage. Blood hormonal lever are normal and anormal XY male karyotype is seen. Diagnosis: the result of the karyotype is conclusive and a complete AIS is diagnosed.

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Author Biography

Patricia Moreira Aguirre, Hospital Clínica San Agustín

Doctora en Medicina y Cirugía; Especialista en Pediatría; Loja, Ecuador

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