The aim of the study is to determine the state of sexual development in patients with inherited epidermolysis bullosa; the study is planned to include boys and girls aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex, junctional epidermolysis bullosa, Kindler syndrome.
Determination of sexual development in children with various types of inherited epidermolysis bullosa using clinical, laboratory and instrumental methods for diagnosing the condition. Phenotyping of patients with inherited epidermolysis bullosa, taking into account their physical and sexual development, indicators of self-attitude and socialization. Development of algorithms for individual care for patients with inherited epidermolysis bullosa, including an assessment of the psychological state at different age stages (primary school and adolescence), the volume and form of psychological and pedagogical assistance in complex rehabilitation.
Study Type
OBSERVATIONAL
Enrollment
50
Biochemical study of the level of follicle-stimulating hormone, luteinizing hormone, estradiol, total testosterone, prolactin, 17-hydroxyprogesterone, dehydroepiandrosterone sulfate, cortisol, insulin, thyroid-stimulating hormone, tetraiodothyronine, thyr
Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys
Determination of bone age using radiography of the hands
Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence
National Medical Research Center for Children's Health
Moscow, Russia
Assessment of the state of sexual development of children with various types of inherited epidermolysis bullosa using the Tanner scale
The endocrinologist's assessment of pubertal development in boys and girls using the Tanner Scale
Time frame: 1 day
Determination of the state of functional activity of the sex glands in children with various types of inherited epidermplysis bullosa by the method of biochemical study of the level of sex hormones
Determination of serum levels of sex hormones in patients (luteinizing hormone, follicle-stimulating hormone, estradiol, total testosterone).
Time frame: 1 day
Determination of additional hormonal indicators
Determination of blood levels of adrenocorticotropic hormone, cortisol, dehydroepiandrosterone-sulfate, 17-hydroxyprogesterone, prolactin, insulin, thyrotropic hormone, triiodothyronine and thyroxine.
Time frame: 1 day
Functional development and morphometric parameters of the genital glands in children with various types of inherited epidermolysis bullosa by ultrasound diagnostics
Ultrasound examination of pelvic organs in girls and scrotal organs in boys to determine morphometric indices.
Time frame: 1 day
The state of bone age in children with various types of inherited epidermolysis bullosa using X-ray examination of the hands
Determination of bone and chronological age correspondence by radiography of the left wrist joint.
Time frame: 1 day
Determination of the psychological state of children with various types of inherited epidermolysis bullosa using the Pearce-Harris scale
Determination of the relationship between self-esteem and gender development in children with different types of hereditary epidermolysis bullosa using the Peirce-Harris scale
Time frame: 1 day
Determination of the psychological state of children with various types of inherited epidermolysis bullosa using the personality drawing technique of K. Machover
Determination of the relationship between self-esteem and gender development in children with different types of hereditary epidermolysis bullosa using the personality drawing technique of K. Machover
Time frame: 1 day
Determination of the psychological state of children with various types of inherited epidermolysis bullosa using the T. Aachenbach questionnaire
Determination of the relationship between self-esteem and gender development in children with different types of hereditary epidermolysis bullosa using the T. Aachenbach questionnaire
Time frame: 1 day
Determination of the level of intellectual development in children with various types of inherited epidermolysis bullosa using D. Wexler's test
Determination of the level of intellectual development and its components (verbal and non-verbal intelligence) in children with various types of inherited epidermolysis bullosa
Time frame: 1 day
Determination of the severity of the course of the disease in children with various types of inherited epidermolysis bullosa using EBDASI
Determination of the severity of the course of the disease in children with various types of inherited epidermolysis bullosa using Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI)
Time frame: 1 day
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.