Pediatric ambiguous genitalia (Adrenogenital syndrome, Morris syndrome, gonadal dysgenesis)

What is it?

These are abnormalities of sexual differentiation. Of the different types, adrenogenital syndrome (SAG) is the most frequent: partial or complete absence of an enzyme in the adrenal gland (the gland above the kidney), which is involved in the production of numerous hormones necessary for the metabolic balance of the body. In such cases, there is excessive production of male hormones, and in chromosomally female fetuses, development of external genitalia with male predominance.

In healthy people, the different factors that determine sex (chromosomal sex, genetic sex, gonadal sex, internal and external genital sex, anagraphic sex, psychological and behavioral sex) coincide: therefore, the external genital appearance is a sufficient parameter to determine whether the unborn child is male or female.

Causes and risk factors

In various ethnic groups, adrenogenital syndrome occurs at a rate of 1 case per 5,000 / 15,000 people.

It occurs because of an error in a complex series of external genital differentiation events: the genitalia failed to complete the differentiation program (determined by chromosomal, genetic and hormonal influences) or even went in the opposite direction.

These errors are manifold and can occur at different levels: chromosomes, gonads, hormones, external genitalia.

Which are the symptoms?

In adrenogenital syndrome, normal development of the ovaries, uterus and deep part of the vagina occurs in chromosomally female fetuses (46,XX), but there is “masculinization” of the external genitalia. At birth, therefore:

·      it is impossible to recognize the labia minora and the labia majora, but rather the skin sacs similar to the scrotum;

·      there are not two external openings, for urethra and vagina respectively, but only one opening;

·      the clitoris is strongly developed, so much so that it resembles a small penis.

There is also a particular type of adrenogenital syndrome, which leads not only to changes in the appearance of the external genitalia, but also to changes in electrolyte metabolism with dehydration and significant loss of salts: if not treated promptly, these anomalies can lead to death.

How is it diagnosed?

The following tests are necessary to make the diagnosis:

·      karyotype: study of chromosomes;

·      ultrasound examination of the pelvic organs: allows you to study the morphology of the internal genital organs;

·      hormonal analyses and tests: they are used to study the functioning of the hormonal balance.

However, there are many methods to study these anomalies and their causes, ranging from routine medical procedures to sophisticated molecular biology techniques.

Suggested exams

How is it treated?

Treatment involves a number of closely related factors: hormonal balance, anatomical appearance and psychological aspects. For this reason, it is important to go to specialized centers with a medical team consisting of several specialists, including a pediatric endocrinologist, pediatric urologist and psychologist.

Genitoplasty is a surgical procedure performed to correct the external genitalia in the female sense, by:

·         possible removal of the changed gonads;

·         creation of a clitoris of the correct size and sensitivity;

·         creation of two separate openings for the urethra and the vagina;

·         reconstruction of the labia minora and labia majora.

These goals are achieved through a single surgical intervention, performed at about 6 months of age.

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