Background: Disorder in formig the sex is a condition associated with the clinical and biochemical manifestation of the discrepancy between genetic, gonadal and phenotypic sex of a child.
Clinical case: A girl of 15 years old with complaints about the menses lack.
History of the case: Parents are closely related marriage. They are first cousins. There are three children in the family, two of them being healthy. At 13 years of age, the operation took place on the occasion of herniotomy (possibly testicle was removed). From the words of mother and girl; she gives preference to male games, clothes and communication with adolescent boys.
Objectively: The body build is male type. Milk glands are absent. Labia are like scrotum type, clitoris is like a penis (3 sm.).On the left there is a palpable formation resembling V testis =8 ml - Tanner II.
Results: Karyotype 46,XU. Estradiol 139.7 pg/ml (norm of a male 1571, that of female 57277). Free testosterone 3.1 pg/ml (norm 8.6921.71). Testosterone 3.5 nmol/l (norm is 10.441.6). Sex thyroid connecting globulin SSG 30.8 nmol/l FSH 5.1 IU/l (norm of a male is 1.311.5; that of a female 2.615.0 pre-ovulatory phase. LH 4.3 IU/l (norm of a male is 1.810.0). According to the data of ultrasonography of organs of contracted pelvis uterus, cervix of uterus, epididymises are not seen. Parents (knowing about the genetic male sex) and the girl insisted on changing the passport sex to male one.
Conclusions: The experience of such rare observations is necessary because further stages of examination and treatment is based on the genetic sex of the child. However, taking into account their late seeing a doctor, removal of the testicles is recommended to the patient, to avoid malignization at the puberty period and parents continue to bring up the child as a female.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology