Diagnosis of diencephalic syndrome

It is necessary to pay attention to the peculiarities of the course of pregnancy and childbirth in the mother: hypoxia, hypotrophy, postmaturity and other factors that contribute to the disruption of the function of the hypothalamic structures of the child's brain. It is also necessary to find out the presence of obesity, diabetes, thyroid disease, and a tendency to vegetative-vascular dystonia in close relatives.

Physical examination

Physical development of children is characterized by high growth and an increase in BMI from the beginning of puberty. Almost a third of patients have a tendency to obesity since childhood. A common sign of hypothalamic dysfunction is white and pink striae on the skin of varying severity; hirsutism is observed in 21% of girls. Hyperpigmentation of the skin in the armpits, neck and elbows is found in 19% of patients; an increase in the thyroid gland to grade I-II is found in 34%.

The course of puberty in girls is characterized by its early onset (9-10 years) and rapid weight gain over 2-4 years against the background of rapid growth of the body in length. The age of menarche ranges from 9 to 12 years. In the vast majority of patients, menstrual cycle disorders are recorded 0.5-2.5 years after the onset of menstruation, mainly coinciding with the age of 14-16 years.

When assessing the rate of puberty, it was found that girls with hypothalamic dysfunction had earlier and more rapid sexual development compared to their peers.

Gynecological examination reveals correct development of the genitals, while almost half of adolescents have hyperpigmentation of the skin of the perineum and inner thighs. The condition, size and location of the internal genitals, as a rule, do not differ from the age norm.

Laboratory diagnostics

Laboratory diagnostics include:

• determination of the serum levels of LH, PRL, FSH, testosterone, estradiol, DHEA-S, cortisol, TSH, triiodothyronine, free thyroxine, and, if necessary, ACTH, as well as STH, antibodies to TPO and TG. According to indications, the daily rhythms of LH, prolactin, and cortisol secretion are studied;
• determination of biochemical blood parameters characterizing the state of lipid, carbohydrate and protein metabolism;
• determination of the glucose level in fasting blood serum. If the glucose level is normal, a glucose tolerance test with a glycemic load is performed, and if the level is elevated, a food load is performed;
• determination of the content of sex steroid metabolites in daily urine.

Instrumental methods

• X-ray of the skull with projection onto the sella turcica, hands and wrist joints with determination of bone age.
• EEG, EchoEG, rheoencephalography or Doppler ultrasound of the cerebral vessels.
• Ultrasound of the pelvic organs, thyroid gland and adrenal glands.
• MRI of the brain (for example, the pituitary-hypothalamic region) with contrast.

Differential diagnostics

It is necessary to conduct differential diagnostics with Itsenko-Cushing's disease and syndrome, brain tumor. In addition, hypothalamic dysfunction should be differentiated from metabolic-endocrine disorders against the background of insulin resistance.

Differential diagnostics is based on additional research methods: MRI of the brain and adrenal glands, the results of studying the daily rhythm of hormones and hormonal status in the conditions of hormonal tests, and biochemical blood parameters.

Indications for consultation with other specialists

In case of dysfunction of the thyroid gland, adrenal glands or signs of hyperinsulinemia (or suspicion of them), a consultation with an endocrinologist is necessary, and in case of manifestations of vegetative dysfunction, thermoneurosis - with a neurologist. If a pituitary adenoma is detected, a consultation with a neurosurgeon is required.

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