ESPE Abstracts

Introduction: Female hypospadias (FH) is one of disorders of sex development signs (DSD). Short and wide urethra that opens into the vagina predisposes to occurrence of recurrent infection of urinary tract, vaginal voiding and postoperative narrowing of artificial vaginal introitus (AVI).Aim: Improve the results of correction FH with stenosis AVI using reintroitoplasty separating the urinary and genital tracts in patients with DSD....

Background: Serious mental and physical retardation are sequelae of untreated congenital hypothyroidism. These complications have become rare since the introduction of neonatal screening in Germany.Case report: Here we report about a girl with congenital hypothyroidism, who suffered from extreme short and thickset stature, rough facial features and straw-like hair at the age of 12 years. She had been detected in newborn screening with a TSH of 132 IU/ml....

Objective and hypotheses: To study the lipid metabolism in children with diabetes type 1.Method: It was included 44 children (33 girls), the average age – 10.2±3.3 years. Patients were divided: group 1 (less than 5 years) – 23 children (17 girls), mean age 9.8±3.6, the average length of diabetes 2.08±1.5 years. The second (over 5 years) – 21 children (16 girls), mean age of 11.6±2.4, the average length – 7.5±1...

Background: Rare congenital conditions with incongruence of chromosomal, gonadal, and phenotypic sex have been summarized as disorders of sex development (DSD). Included in DSD are conditions with diverse genetic etiology, varying levels of prenatal androgen effects, phenotypes, and subsequently, different medical treatments. Quality of life (QoL) and psychological wellbeing are indicators of successful psychosocial adaptation to the conditions. Studies addressing these issues...

Background: NR5A1 mutations in DSD patients result in a wide range of clinical manifestations.Objective and hypotheses: To evaluate the clinical variability of ambiguous phenotypes and the gender assignment in DSD patients with SF1 mutations.Method: Clinical examination, hormonal tests, ultrasound, laparoscopy and molecular analyses, including direct and parallel sequencingResults: Case 1. A girl, aged 18 mon...

Background: Serotonine transporter gene (SLC6A4) polymorphism is one of genetic aspects of appetite and mood disorders.Objective and hypotheses: To determine the frequencies of 5-HTTLPR locus in promotor part of serotonine transporter gene (SLC6A4) polymorphism in children with different forms of obesity.Method: We examined 191 pubertal obese children. Patients were divided: Group 1 (simple obesity) 143 children, 14.3±1.8 year...

Background: Polymorphic genes Val158Met gene catechol-O-metiltrasferaz (COMT) are used to be responsible for less neurotransmitters utilization.Objective and hypotheses: To determine the peculiarities of neurotransmitters levels in children with obesity and different genotypes of COMT gene.Method: We examined 191 pubertal obese children. Patients were divided: Group1 (simple obesity) 143 children, 14.3±1.8 years, 30.6±2.8...

Background: Several studies found a high prevalence of sleep disorders in PWS patients. It is assumed that Prader-Willi Syndrome (PWS) patients are at a high risk of sleep disordered breathing, such as obstructive sleep apnea (OSA), because of their childhood obesity, associated with muscle hypotonia, leading to upper airway collapse.Objective and hypotheses: We studied a group of PWS children (genetically confirmed, non-GH-treated) who performed complet...

Background: PROP-1 gene mutations are responsible for most of the cases of multiple pituitary hormone deficiencies (MPHD).Objective and hypotheses: We performed to evaluate the final adult height (FAH) in a group of patients with a PROP-1 gene mutations. Twenty-five patients (11 males) with a PROP-1 gene mutation, not treated before, were recruited. All the patients had been treated with a fixed rhGH dose (0.033 mg/kg per day) for 10.5 years (7.0–11...

Background: Hypogonadism is one of the major diagnostic criteria of Prader-Willi syndrome (PWS). A hypogonadotropic hypogonadism is often present as a result of hypothalamic dysfunction (together with other hormonal disorders, such as growth hormone deficiency and hypothyroidism).Presentation: A 8.5-year-old boy with genetically-confirmed PWS (maternal uniparental disomy) presented in our Endocrinology Unit for routinely follow-up. Therapy with rhGH was ...