Gonadal hypofunction

Gonadal hypofunction is defined as the inadequate production of sex hormones by the gonads: testis and ovary. This triggers poor pubertal development.

Causes

The malfunction of the gonads (testicle and ovary) can be caused by different situations:

• Radiation

• Genetic disorder or syndrome: Kallman syndrome (they also have an inability to smell), Klinefelter syndrome and Turner syndrome

• Infection

• Liver or kidney disease

• Gonadal development problems: for example gonadal dysgenesis

• Pituitary tumors: craniopharyngioma

The best known genetic syndromes that cause hypogonadism are due to the deficiency of enzymes essential for the synthesis of sex hormones (such as Turner syndrome in women or Klinefelter syndrome in men).

Turner syndrome

It is a genetic disease that affects exclusively women, in which the woman does not have the normal pair of two X chromosomes.

Humans have 46 chromosomes, which contain all genetic information (DNA). Two of these chromosomes determine whether a person will be a male (XY) or a female (XX).

In Turner syndrome, one of the X chromosomes is totally or partially missing. Its incidence is 1 in every 2,000 births.

The physical characteristics of girls with Turner syndrome are: swollen hands and feet, wide and short neck attached by membranes (also called winged neck), incomplete puberty (small breasts and a lack of pubic hair), shield-shaped chest and flat, drooping eyelids, dry eyes, infertility, absence of menstruation. All this results in short final stature and lack of sexual maturity. Kidney or heart malformations can be associated.

To make the definitive diagnosis, a study of the chromosomes must be carried out: a karyotype.

Treatment consists of administering growth hormone (GH) and female sex hormones (estrogens).

Klinefelter syndrome

It is the presence of one or more extra X chromosomes in a male: XXY or XXXY.

The incidence of Klinefelter syndrome is 1 in 500 to 1,000 men.

The most common symptom is infertility but they can also present: abnormal body proportions (excessively long legs, short trunk and shoulder and hips of the same size), gynecomastia (presence of breasts), less pubic, axillary and facial hair, testicles and small penis, infertility and tall stature.

They are children who may present behavioral disturbances and an increased risk of breast cancer.

For its diagnosis, a karyotype, a fertility study (semen study) and a hormonal analysis are necessary.

Treatment is done with testosterone from 11-12 years.