The State of Sexual Development in Children With Inherited Epidermolysis Bullosa
- Conditions
- Puberty DisordersDermatologic DiseaseEpidermolysis Bullosa, JunctionalKindler SyndromeHormone DisturbanceEpidermolysis BullosaEpidermolysis Bullosa DystrophicaEpidermolysis Bullosa Simplex
- Interventions
- Diagnostic Test: Biochemical study of hormone levelsDiagnostic Test: Ultrasound examinationRadiation: Radiography of the handsBehavioral: Consultation of a medical psychologist
- Registration Number
- NCT05033574
- Lead Sponsor
- National Medical Research Center for Children's Health, Russian Federation
- Brief Summary
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.
- Detailed Description
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.
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 50
Inclusion Criteria
- Male and female patients from 8 to 18 years of age with an established diagnosis of epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, Kindler syndrome.
Exclusion Criteria
- Hypergonadotropic hypogonadism;
- previous treatment with sex steroids or gonadotropins;
- the presence of endocrine diseases (hypothyroidism, hypercorticism, hyperprolactinemia, diabetes mellitus);
- the presence of chronic somatic diseases that are not complications of inherited epidermolysis bullosa (bronchopulmonary diseases, cardiovascular diseases, diseases of the urinary system, diseases of the gastrointestinal tract).
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa dystrophic Biochemical study of hormone levels Male patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa dystrophic. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of junctional epidermolysis bullosa Ultrasound examination Female patients aged 8 to 18 years with a diagnosis of junctional epidermolysis bullosa. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa dystrophic Ultrasound examination Male patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa dystrophic. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa dystrophic Biochemical study of hormone levels Female patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa dystrophic. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa dystrophic Ultrasound examination Female patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa dystrophic. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa simplex Biochemical study of hormone levels Female patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of junctional epidermolysis bullosa Consultation of a medical psychologist Female patients aged 8 to 18 years with a diagnosis of junctional epidermolysis bullosa. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of Kindler syndrome Ultrasound examination Female patients aged 8 to 18 years with a diagnosis of Kindler syndrome. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of Kindler syndrome Radiography of the hands Female patients aged 8 to 18 years with a diagnosis of Kindler syndrome. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa dystrophic Consultation of a medical psychologist Male patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa dystrophic. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa simplex Ultrasound examination Female patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of junctional epidermolysis bullosa Biochemical study of hormone levels Female patients aged 8 to 18 years with a diagnosis of junctional epidermolysis bullosa. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of Kindler syndrome Biochemical study of hormone levels Female patients aged 8 to 18 years with a diagnosis of Kindler syndrome. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa simplex Biochemical study of hormone levels Male patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa simplex Radiography of the hands Female patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa simplex Consultation of a medical psychologist Female patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of junctional epidermolysis bullosa Radiography of the hands Female patients aged 8 to 18 years with a diagnosis of junctional epidermolysis bullosa. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa dystrophic Radiography of the hands Female patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa dystrophic. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa simplex Radiography of the hands Male patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of junctional epidermolysis bullosa Ultrasound examination Male patients aged 8 to 18 years with a diagnosis of junctional epidermolysis bullosa. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of junctional epidermolysis bullosa Consultation of a medical psychologist Male patients aged 8 to 18 years with a diagnosis of junctional epidermolysis bullosa. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa dystrophic Consultation of a medical psychologist Female patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa dystrophic. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal girls with an established diagnosis of Kindler syndrome Consultation of a medical psychologist Female patients aged 8 to 18 years with a diagnosis of Kindler syndrome. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa simplex Ultrasound examination Male patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa simplex Consultation of a medical psychologist Male patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of junctional epidermolysis bullosa Radiography of the hands Male patients aged 8 to 18 years with a diagnosis of junctional epidermolysis bullosa. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of Kindler epidermolysis bullosa Biochemical study of hormone levels Male patients aged 8 to 18 years with a diagnosis of Kindler syndrome. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of junctional epidermolysis bullosa Biochemical study of hormone levels Male patients aged 8 to 18 years with a diagnosis of junctional epidermolysis bullosa. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa dystrophic Radiography of the hands Male patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa dystrophic. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of Kindler epidermolysis bullosa Ultrasound examination Male patients aged 8 to 18 years with a diagnosis of Kindler syndrome. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of Kindler epidermolysis bullosa Radiography of the hands Male patients aged 8 to 18 years with a diagnosis of Kindler syndrome. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned. Prepubescent and pubertal boys with an established diagnosis of Kindler epidermolysis bullosa Consultation of a medical psychologist Male patients aged 8 to 18 years with a diagnosis of Kindler syndrome. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.
- Primary Outcome Measures
Name Time Method 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 1 day Determination of serum levels of sex hormones in patients (luteinizing hormone, follicle-stimulating hormone, estradiol, total testosterone).
Assessment of the state of sexual development of children with various types of inherited epidermolysis bullosa using the Tanner scale 1 day The endocrinologist's assessment of pubertal development in boys and girls using the Tanner Scale
Determination of additional hormonal indicators 1 day Determination of blood levels of adrenocorticotropic hormone, cortisol, dehydroepiandrosterone-sulfate, 17-hydroxyprogesterone, prolactin, insulin, thyrotropic hormone, triiodothyronine and thyroxine.
Functional development and morphometric parameters of the genital glands in children with various types of inherited epidermolysis bullosa by ultrasound diagnostics 1 day Ultrasound examination of pelvic organs in girls and scrotal organs in boys to determine morphometric indices.
The state of bone age in children with various types of inherited epidermolysis bullosa using X-ray examination of the hands 1 day Determination of bone and chronological age correspondence by radiography of the left wrist joint.
Determination of the psychological state of children with various types of inherited epidermolysis bullosa using the personality drawing technique of K. Machover 1 day 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
Determination of the psychological state of children with various types of inherited epidermolysis bullosa using the Pearce-Harris scale 1 day Determination of the relationship between self-esteem and gender development in children with different types of hereditary epidermolysis bullosa using the Peirce-Harris scale
Determination of the psychological state of children with various types of inherited epidermolysis bullosa using the T. Aachenbach questionnaire 1 day Determination of the relationship between self-esteem and gender development in children with different types of hereditary epidermolysis bullosa using the T. Aachenbach questionnaire
Determination of the severity of the course of the disease in children with various types of inherited epidermolysis bullosa using EBDASI 1 day 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)
Determination of the level of intellectual development in children with various types of inherited epidermolysis bullosa using D. Wexler's test 1 day Determination of the level of intellectual development and its components (verbal and non-verbal intelligence) in children with various types of inherited epidermolysis bullosa
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
National Medical Research Center for Children's Health
🇷🇺Moscow, Russian Federation