ESPE Abstracts

Background: 45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes, ranging from ambiguous genitalia at birth to patients with a completely male or female phenotype. Turner syndrome stigmata and associated anomalies could be found in these patients.Objective and hypotheses: To evaluate clinical presenting symptom and follow-up data of 30 patients with 45,X/46,XY karyotype.Method: Thirty patients with 45,X/46,XY mosa...

Background: Turner syndrome (TS) is associated with increased arterial stiffness. To date, factors associated with the ontogeny of Turner arteriopathy remain unclear.Objective and hypotheses: To assess the associations of vascular biomarkers and the somatotrophic axis with arterial stiffness indices, and left heart size, in normotensive ‘dipper’ TS.Method: Sixty-one patients with uncomplicated normotentensive &#1...

Background: Short stature and gonadal dysgenesis are the main characteristics in Turner syndrome (TS). There are conflicting reports about the body proportions in TS. Some studies described a proportionate short stature, whereas others reported disproportionately short legs. It is known that body proportions are genetically controlled and are different in different populations or ethnic groups.Objective and hypotheses: To evaluate body proportions assess...

Introduction: Rate of weight gain during early childhood may have an effect on timing of puberty in girls. Biological mechanisms underlying this condition are not fully understood. Studies examining this association in boys report contradictory results. Our aim was to examine the effects of growth rate during the first years of life on the onset of puberty both in girls and boys.Description of methods: 159 children aged between 6 and 9 years who were att...

Background: Gonads containing adrenal rests may enlarge in response to chronic overstimulation by ACTH in diseases with ACTH hypersecretion such as poorly controlled congenital adrenal hyperplasia (CAH), Addison’s disease and Nelson’s syndrome. Testicular adrenal rest tumors (TART) are present in childhood in CAH patients and frequency in adults may be up to 50–95%. Ovarian adrenal rest tumors (ART) are less frequently detected. TART is decribed less in patients...

Background: Nonclassical congenital adrenal hyperplasia (NCAH), which is generally presented with symptoms of androgen excess, is inherited autosomal recessive due to different kind of mutations in the CYP21A2. Recently, high frequency of copy number variations at CYP21A2 gene and predisposition of heterozygous duplicated CYP21A2 for de novo gene aberrations has been reported.Objective and hypotheses: To evaluate clini...

Background: Main diagnosis of 46,XY disorders of sex development (DSD) with normal testosterone secretion Androgen insensivity sydrome (AIS) or 5α-reductase deficiency (5α-RD). In prepubertal period, AIS and 5α-RD present indistinguishable phenotypes that necessitate the molecular analyses for the definitive diagnosis.Objective and hypotheses: Clinical, hormonal and genetic investigation of 46,XY DSD patients who considered as PAIS or 5&#9...

Background: Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11OHD), a rare autosomal recessive disorder, is the second most common form of CAH, resulting in glucocorticoid deficiency, hyperandrogenism and hypertension.Objective and hypotheses: To investigate the specific CAH mutations in CYP11B1 gene and to examine for genotype-phenotype correlations.Method: 21 patients (n=9, 46, XX; <...

Background: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires accurate diagnosis and urgent treatment. Congenital adrenal hyperplasia is the most common cause of PAI in children. Non-CAH causes of PAI are relatively rare. Although several molecular causes have been found, it is emerging that considerable overlap in the clinical and biochemical features of these conditions exists.Objective and hypotheses: We inv...