Genetic diseases







ANAL IMPERFORATION

These are newborn babies whose anus is not in place:

- in girls, it is often touched at the level of the vulva (vulvar anus);

- In boys, the rectum ends in a cul-de-sac and no orifice is visible.

These children must be operated on from birth.

Copyright photo : Par Marc A Levitt, Alberto Peña — Marc A Levitt, Alberto Peña. Anorectal malformations. Orphanet Journal of Rare Diseases. 2, 33. 2007. PMID 17651510., CC BY 2.0,

Bibliography : Anorectal Malformations in Children: Embryology, Diagnosis, Surgical Treatment, Follow-up de Alexander Matthias Holschneider et John M. Hutson

INTERSEXUATION

In some cases, it is difficult to pronounce at birth on the gender of the newborn: boy or girl. The appearance of the genitals takes two forms:

- Either a masculine aspect, but with a small penis, hypospadias and an absence of testicles in the bursa:

- Either a feminine aspect, but with an increase in volume of the clitoris and the absence of vaginal orifice at the level of the vulva.

These intersex states therefore cause a modification of the external appearance of the genitals, and we observe all the intermediate forms between the boy and the girl.

From the chromosomal point of view, we distinguish:

- true hermaphroditism, which is rare with the presence of both male and female cells;

- false hermaphroditism, where all the cells have the same sex but where abnormal hormonal secretion during embryonic life has modified the formation of the genital organs.

At birth, the child should be given a mixed first name, as long as the assessment is not carried out.

Depending on the chromosomal sex, and the appearance of the genitals, it will be necessary to operate the infant, to give him a normal appearance.

Copyright : Par Fibonacci — Travail personnel, Domaine public,

Bibliography : Ni homme, ni femme : enquête sur l'intersexuation by Picquart Julien