Hypogonadism is a medical term which describes a diminished functional activity of the gonads – the testes and ovaries in males and females, respectively. Certain patients have hypogonadism from birth, while others may develop the condition later in their life. The disease has different features in males and in females, before and after the onset of puberty. If onset is in pre-pubertal boys, signs and symptoms of lack of testicular function include a change of male hair distribution, including facial, chest, and axillary hair, poor development of skeletal muscles, and disturbance of bone growth resulting in abnormally long arms and legs. Blood levels of the male hormone testosterone are low. Also observed are missing laryngeal enlargement, failure of vocal chord thickening, and alterations in body fat distribution. When hypogonadism occurs in males after puberty, low concentration of testosterone in the blood causes lack of energy, weakness, lethargy and diminished sexual function, reduced bone mass and often anaemia. In girls with hypogonadism before puberty, impaired ovarian function leads to failure of progression through puberty. The absence of periods is the most common feature. Blood levels of estradiol are low. When hypogonadism occurs after puberty, irregular periods or absence of periods is the usual concern. The patients develop ovarian suppression which manifests as infertility, decreased libido, breast atrophy, and osteoporosis.
For male patients with primary hypogonadism, the most common cause is a genetic disorder, a chromosome abnormality which occurs in one case per approximately 1,000 live births. Primary hypogonadism is more common in boys than in girls because the incidence of Klinefelter syndrome (KS) is higher than the incidence of the equivalent condition for girls, Turner syndrome (TS) . Hypogonadotrophic hypogonadism (HH) in men occurs more rarely. It is estimated, though, that less than five per cent of men with HH are diagnosed and are receiving hormone replacement therapy; around a fifth of men aged more than 50 years are believed to have androgen deficiency. For women with primary hypogonadism, the most common cause is a genetic disorder known as TS, a chromosome abnormality which occurs with an incidence of one case per approximately 5.000 live births. The incidence of HH in females is equal to that in males. Chromosome study in the males and females with hypogonadism becomes essential from the clinical point of view. Little is known, however, about other underlying genetic causes. Therefore, we analysed 50 boys and 14 females seen by the same physician during the childhood or adolescence for hypogonadism.
Citation: Demirhan O, Tanriverdi N, Süleymanova D, Çetinel N, Yasar Y (2015) The Frequency and Types of Chromosomal Aberrations in the Patients with Hypogonadism. Human Genet Embryol 4:124. doi: 10.4172/2161-0436.1000124