State of sexual development in children with congenital epidermolysis bullosa

Abstract

Purpose of the study. Assess the state of sexual development in children with CEB.Methods and materials. The study included 50 children aged 8.11 to 17.80 years with CEB who were treated at the National Medical Research Centre for Children’s Health (Moscow, Russia) from December 2020 to April 2022. Anthropometric parameters, the stage of sexual development on the Tanner scale, bone age, the level of pituitary (FSH, LH) and sex (estradiol, testosterone) hormones, additional hormonal parameters (cortisol, DHEA-sulfate, 17OHP, ACTH, prolactin, TSH, T3, T4, insulin), ultrasound of the pelvic organs for girls and ultrasound of the scrotum organs in boys, the results of a psychological and pedagogical examination (questionnaire according to S. Bem, ‘drawing of a person’ by K. Machover, D. Wechsler’s test) were assessed in all patients. The data are presented using median (Me), quartiles of 25 and 75% [Q25; Q75] and standard error (SE). Due to the small number of observations, nonparametric statistical criteria were used to assess the significance of the differences in the obtained indicators.Results. According to the results of the study, a statistically significant relationship was established between the occurrence of deviations in sexual development in children with CEB and the clinical form of the disease (p < 0,001). The severity of clinical manifestations of CEB according to the EBDASI scale was significantly higher in children in the group with deviations in sexual development (p = 0,000) compared with the group of children with normal sexual development. Anthropometric indicators of BAZ and HAZ in the group of children with deviations in sexual development were statistically significantly reduced (p = 0.000, p = 0.000, respectively) compared with children with normal sexual development, which means a significantly higher incidence of malnutrition in this cohort of patients. Basal levels of FSH and LH (p = 0,000, p = 0,001, respectively), estradiol and testosterone (p = 0,002, p = 0,000, respectively) were significantly lower in children with abnormalities in sexual development compared with children with normal sexual development. A statistically significant relationship was revealed in the studied groups with the stage of sexual development according to Tanner scale (p = 0,032). Among all patients with CEB (n = 50), delay puberty was diagnosed in 7 patients (14%), while all patients suffered from RDEB and had low basal LH levels, reduced estradiol and testosterone values, which allowed them to be diagnosed with hypogonadotropic hypogonadism (HH).Conclusions. In patients with CEB with the most severe degree of clinical manifestations, accompanied by decompensated malnutrition of multifactorial genesis, there are deviations in sexual development and upon reaching the age of 13 years, girls and boys develop transient (symptomatic).