A woman suffering from an anomaly of sexual development, which should have disrupted her puberty and prevented her pregnancy, did not however feel either of these two symptoms.
- 46.XY complete gonadal dysgenesis disrupts puberty and pregnancy in affected women.
- However, a patient with this anomaly of sexual development had neither of these two symptoms.
the The sexual development of the human being is done in three stages: first at the level of the chromosomes, then of the gonads – or genital glands – and, finally, on the development of the reproductive organs. Sexual differentiation, that is to say the fact of being a boy or a girl, is made from the conception of a child. At this time, the chromosomes from the mother and the father merge to form those specific to the newborn. These obviously include the sex chromosomes: 46,XY for a male and 46,XX for a female.
46.XY complete gonadal dysgenesis, an abnormality of sex development
Nevertheless, many genes are involved in this process of differentiation. Thus, if some have defects, this can lead to disorders of sexual development, including that known as complete gonadal dysgenesis at 46,XY. This anomaly is associated with abnormal development of the gonads which results in the presence of external and internal female genitalia while the individual’s karyotype – number and structure of chromosomes – contains the male sex chromosome 46,XY.
Little chance of carrying a pregnancy to term
Patients with 46,XY complete gonadal dysgenesis do not have normal puberty and usually cannot carry a pregnancy naturally. This must be assisted. And yet, researchers have just reported the case of a woman who derogated from these two generalities. During adolescence, she had her first period in the same age group as all young girls and thereafter had quite regular periods. Even more surprising for the scientists: the patient’s ovaries are normal, she is fertile and has had two pregnancies without any assistance.
One patient had a baby girl, who also has complete gonadal dysgenesis at 46.XY
This study, published in the journal The journal of clinical endocrinology & metabolism, also addresses the transmission of this anomaly of sexual development. The woman with 46.XY complete gonadal dysgenesis gave birth to a baby girl who also has this disorder. But, according to the researchers, the daughter would have inherited her Y chromosome from her father.
Family history of disorders of sexual development
To expand on their findings, the scientists conducted a genetic survey of the four generations that preceded the mom with dysgenesis complete gonad at 46.XY. They thus observed that several other members of his family had had anomalies of sexual development and, for some, difficulties in having children, going as far as infertility, both in adult men and in women. In detail, seven members had either had a genital ambiguity on the reproductive organs, either infertility or an absence of menstruation for women. On the other hand, they do not explain the reasons for puberty and the two normal pregnancies of this patient.
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