Hypothalamic prepubertal hypogonadism: causes, symptoms, diagnosis, treatment

Hypothalamic prepubertal hypogonadism can be observed in the absence of organic changes in the hypothalamic region. In this case, congenital, possibly hereditary, pathology is assumed. It is also observed in structural lesions of the hypothalamus and the pituitary foot in craniopharyngiomas, internal hydrocephalus, neoplastic processes of various types, including leukemia, granuloma (eosinophilic granuloma, histiocytosis-X, sarcoidosis, tuberculosis), encephalitis, microcephaly, Friedreich's ataxia, demyelinating diseases.

Pathogenesis of hypothalamic prepubertal hypogonadism

There is a violation of the pituitary gland and the sexual glands due to insufficiency or impaired secretion of the releasing factor of LH.

Symptoms of hypothalamic prepubertal hypogonadism

Up to 5-6 years of age, no pathology is noted. By the age of 6-7, boys are found to have small scrotal and testicles, a penis. Cryptocyst is often detected. Attention is paid to "eunuchoid high growth", muscle weakness, asthenic physique, specific changes in teeth (large medial incisors of shovel-shaped, lateral incisors are poorly developed, canines short and obtuse). Dry soft skin with pale pigmentation is noted. Adolescents never have acne. Very curvy hair on the head combined with the lack of hairy skin. In the future, gynecomastia develops. Boys are usually closed, easily vulnerable, and often the behavior typical of girls is noted.

Prepubertal hypothalamic hypogonadism in girls is manifested by the absence of normal puberty, primary amenorrhea. There are eunuchoid body proportions, skin with a lot of acne, lack of dermal hair with lush hair on the head, often vitiligo, underdevelopment of the external genitalia, mammary glands, infantile proportions of the uterus. Mental development is within the norm. Girls are distinguished by a sense of inferiority, shyness, complaisant character, easy resentment, tearfulness.

Differential diagnosis of hypothalamic prepubertal hypogonadism

Hypothalamic hypogonadism in the prepubertal period should be differentiated from the Babinsky-Frohlich disease, pituitary dwarf growth within the framework of the infantilism of the Loren-Levy type, the forms of hypothalamic obesity with hypogonadism, the Lawrence-Mun-Barde-Biddle syndromes, the Prader-Willy syndrome, the primary hypopituitarism, primary testicular damage in boys, Turner's syndrome in girls. Obesity, low growth, birth defects, pigmented retinitis, mental retardation make it possible to exclude the diagnosis of prepubertal hypogonadism.

The reaction of gonadotropins to a single injection of the LH-releasing factor (LH-RF) is markedly impaired or absent, indicating a failure of the preceding (endogenous) stimulation by the LH-RF. If repeated administration of LH-RF causes a "release" of gonadotropins and a normal or even excessive reaction is observed, the diagnosis of primary hypopituitarism is excluded and, conversely, the diagnosis of prepubertal hypogonadism is confirmed. In boys, a differential diagnosis should also be made with Callman's syndrome (olfactory-genital dysplasia), in which the symptoms of prepubertal hypothalamic hypogonadism are combined with an ano- or hyposmia, color blindness, deafness.

Treatment of hypothalamic prepubertal hypogonadism

Sex steroids are used to ensure the development and preservation of secondary sexual characteristics. Currently, a method of treatment with the use of analogs of L-releasing factors is under development.

[1], [2], [3], [4], [5], [6]