ESPE Abstracts

Background: Infertility is one of the major problems in adult males with congenital adrenal hyperplasia (CAH), associated with the development of testicular adrenal rest tumors (TART). Sertoli cell dysfunction could be diagnosed not only in adults but in adolescence.Objective and Hypotheses: To study Inhibin B and AMH levels in adolescents with CAH and TART and its diagnostics value in access of Sertoli cell function.Method: We stu...

Background: Graves’ disease (GD) is almost always the cause of hyperthyroidism in children. Studies carried out for recent years confirm an important role of T regulatory cells (Tregs) in the development of autoimmune diseases. However, the interactions between T-cell response and Treg proliferation in GD is still poorly understood.Objective and hypotheses: The aim of this research was the assessment of the in vitro proliferation of Treg ce...

Background: The nonclassic congenital adrenal hyperplasia (CAH) is often presented as isolated premature pubarche in childhood. Definitive diagnosis is genetic.Objective and hypotheses: To describe patients diagnosed in our hospital, clinical signs and laboratory results that lead to genetic study. To analyze adult height.Method: Descriptive retrospective study of our population with genetic confirmation.Resu...

Background: Obesity is a major risk factor for developing type 2 diabetes mellitus (T2DM). Despite the obesity epidemics, the incidence of childhood T2DM is not increased.Objective and hypotheses: To assess the β-cell reserve expressed as an oral glucose disposition index (GDIo), an independent predictor of developing T2DM.Method: A total of 80 adolescents (61.3% girls), aged from 10.0 to 17.6 years (mean age 13.59±2.34 y...

Background: Introital stenosis is the main complication of vaginoplasty in females with Congenital Adrenal Hyperplasia (CAH) which could result from poor estrogenization of vaginal tissue during puberty.Objective and hypotheses: To evaluate the maturation of vaginal mucosa depending on the degree of compensation.Method: 19 adolescent girls with CAH (salt-wasting (SW) – 9, simple virilizing (SV) – 10; 15.9 years (14.4, 16....

Background: McCune–Albright syndrome (MAS) is a sporadic and rare disorder, clinically defined by the classic triad of cafè-au-lait skin lesions, polyostotic fibrous dysplasia, and peripheral precocious puberty. Precocious puberty is common in girls, but has been reported in only 15% of affected boys. Clinical trials on therapeutic management of precocious puberty in MAS boys are limited to case reports or small patient cohorts and no data are reported about final he...

Background: The replacement therapy with levo-thyroxine (LT4) in congenital hypothyroidism (CH) aims to ensure normal growth and neuropsychological development. Few data are available about the appropriate dose during childhood and early adolescence.Objective and hypotheses: i) To evaluate LT4/kg per day requirement from diagnosis until 12 years of age; ii) to assess any differences in relation to the different etiology of CH as concern...

Background: Congenital hypothyroidism (CH) has a high incidence, with a local increase in our screening relieves in the last years.Objective and hypotheses: An accurate follow up and an appropriate treatment guarantee an adequate neurological and auxological development.Method: We describe the personal report of 74 children (27 males and 43 females) with CH, diagnosed by neonatal screening and followed for 8.5±5.3 years.<p...

Background: Primary Addison’s disease (AD) is a rare endocrine condition, with reduced or absent secretion of adrenal hormones. Steroid replacement therapy normalizes endocrine assess and the quality of life. More than a half of patients display additional autoimmune conditions, which represent a considerable clinical concern.Objective and hypotheses: Antiparietal cells antibodies (APC-Ab) are commonly found in patients with autoimmune Addison’...

Background: Arnold-Chiari malformations (CM), types I-IV, refer to a spectrum of congenital hindbrain maldevelopments characterized by downward herniation of the cerebellar tonsils. CM-I is defined as tonsillar herniation of 3–5 mm below the foramen magnum and is the most common and the least severe of the spectrum.Objective and hypotheses: Children with CM-I usually are asymptomatic and often diagnosed in adulthood, therefore early presentation of ...