The State of Sexual Development in Children With Inherited Epidermolysis Bullosa

Study Overview
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Brief Summary
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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
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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.

Official Title
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The State of Sexual Development in Children With Inherited Epidermolysis Bullosa

Conditions
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Dermatologic Disease, Epidermolysis Bullosa, Epidermolysis Bullosa Simplex, Epidermolysis Bullosa Dystrophica, Epidermolysis Bullosa, Junctional, Kindler Syndrome, Puberty Disorders, Hormone Disturbance

Intervention / Treatment
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* Diagnostic Test: Biochemical study of hormone levels
* Diagnostic Test: Ultrasound examination
* Radiation: Radiography of the hands
* Behavioral: Consultation of a medical psychologist


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 1. 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).

Ages Eligible for Study
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Minimum Age: 8 Years
Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa simplex<br>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. | Diagnostic Test: Biochemical study of hormone levels<br>* 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<br>Diagnostic Test: Ultrasound examination<br>* Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys<br>Radiation: Radiography of the hands<br>* Determination of bone age using radiography of the hands<br>Behavioral: Consultation of a medical psychologist<br>* Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence<br>|
| Prepubescent and pubertal girls with an established diagnosis of junctional epidermolysis bullosa<br>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. | Diagnostic Test: Biochemical study of hormone levels<br>* 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<br>Diagnostic Test: Ultrasound examination<br>* Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys<br>Radiation: Radiography of the hands<br>* Determination of bone age using radiography of the hands<br>Behavioral: Consultation of a medical psychologist<br>* Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence<br>|
| Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa dystrophic<br>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. | Diagnostic Test: Biochemical study of hormone levels<br>* 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<br>Diagnostic Test: Ultrasound examination<br>* Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys<br>Radiation: Radiography of the hands<br>* Determination of bone age using radiography of the hands<br>Behavioral: Consultation of a medical psychologist<br>* Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence<br>|
| Prepubescent and pubertal girls with an established diagnosis of Kindler syndrome<br>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. | Diagnostic Test: Biochemical study of hormone levels<br>* 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<br>Diagnostic Test: Ultrasound examination<br>* Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys<br>Radiation: Radiography of the hands<br>* Determination of bone age using radiography of the hands<br>Behavioral: Consultation of a medical psychologist<br>* Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence<br>|
| Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa simplex<br>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. | Diagnostic Test: Biochemical study of hormone levels<br>* 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<br>Diagnostic Test: Ultrasound examination<br>* Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys<br>Radiation: Radiography of the hands<br>* Determination of bone age using radiography of the hands<br>Behavioral: Consultation of a medical psychologist<br>* Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence<br>|
| Prepubescent and pubertal boys with an established diagnosis of junctional epidermolysis bullosa<br>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. | Diagnostic Test: Biochemical study of hormone levels<br>* 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<br>Diagnostic Test: Ultrasound examination<br>* Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys<br>Radiation: Radiography of the hands<br>* Determination of bone age using radiography of the hands<br>Behavioral: Consultation of a medical psychologist<br>* Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence<br>|
| Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa dystrophic<br>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. | Diagnostic Test: Biochemical study of hormone levels<br>* 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<br>Diagnostic Test: Ultrasound examination<br>* Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys<br>Radiation: Radiography of the hands<br>* Determination of bone age using radiography of the hands<br>Behavioral: Consultation of a medical psychologist<br>* Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence<br>|
| Prepubescent and pubertal boys with an established diagnosis of Kindler epidermolysis bullosa<br>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. | Diagnostic Test: Biochemical study of hormone levels<br>* 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<br>Diagnostic Test: Ultrasound examination<br>* Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys<br>Radiation: Radiography of the hands<br>* Determination of bone age using radiography of the hands<br>Behavioral: Consultation of a medical psychologist<br>* Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 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). | 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. | 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. | 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. | 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 | 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 | 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 | 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 | 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) | 1 day | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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inherited epidermolisys bullosa, epidermolisys bullosa, epidermolisys bullosa simplex, epidermolisys bullosa junctional, epidermolisys bullosa dystrophic, Kindler syndrome, puberty, sexual development, epidermolysis bullosa, congenital epidermolysis bullosa