Syndrome of complete insensitivity to androgens of the 4-years-old child

Abstract

To demonstrate an interesting and rare case in the clinical practice of testicular feminization syndrome in a child, as an accidental finding when performing a planned surgical intervention. A mother with a child E., born in 2010 (at the time the child was 4 years old) was hospitalized with the mother’s complaints about the presence of protrusions in both inguinal areas from birth, the mother denied cases of infringement. The child was examined on an outpatient basis and the next day a scheduled surgical intervention was prescribed — hernia repair on both sides. At the opening of the hernial sac on the right, the contents were the testicle, 1.6 × 1.6 × 1.0 cm in size, with an appendage and vas deferens. Then an opening of the hernial sac was performed on the left, the contents of the hernial sac was also a testicle measuring 1.8 × 1.2 × 1.0 cm with an appendage and d. deference. Examination was performed: on an ultrasound of the pelvic organs — the bladder is full, the effusion in the pelvis is up to 12–15 mm high, the uterus and ovaries are not located at the time of the examination. In the abdominal cavity (in the iliac regions), ovarian testicles with mediastinum are located on both sides — 19 × 11 mm on the right, 16 × 10 mm on the left. The clinical case that we have provided will be of interest to pediatric surgeons and geneticists in view of the unusual and complex clinical diagnosis of this condition. In the presence of a female phenotype, the child completely lacked the organs of the female reproductive system, this disease was detected only due to the presence of a concomitant pathology in the child, a bilateral inguinal hernia. The early diagnosis of STF is especially important given the risk of malignancy of the gonads in the post-pubertal period.

Keywords

testicular feminization / children’s surgery / abdominal cavity / operative measure / hernia repair / genetic syndrome / syndrome of complete insensitivity to androgens

References

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RIGHTS & PERMISSIONS

Gavrilyuk V.P., Kostin S.V., Statina M.I., Severinov D.A., Ageeva E.O.