ESPE Abstracts

Background: Central precocious puberty (CPP) is uncommon before the age of 4 and treatment with GnRH analogues have shown unequivocal benefits. CPP during or near mini puberty entails differential clinical and biochemical features in the diagnosis and leads to longer treatment and follow-up. There are very limited studies with long-term outcomes about CPP girls exclusively < 4 years of age regarding growth, menarche, and adult height after GnRHa withdrawal....

Introduction: Barakat Syndrome (HDR Syndrome) is characterized by hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) caused by an autosomal dominant inheritance, being mostly associated to deletions in chromosome 10p14 or mutations in GATA3 gene.Case Report: A 9 years old male was admitted at an emergency complaining of upper and lower limbs pain and contractures that progressed with periodic tetany...

Background: Autoimmune thyroid disease (AITD), including autoimmune thyroiditis (AT) and Graves’ disease (GD), is a complex autoimmune disease with a strong genetic component. The cytotoxic product of T-lymphocyte antigen-4 (CTLA4) gene, encoding a negative regulator of the T-lymphocyte immune response, was shown to be associated to AITD.Objective and hypotheses: To investigate the association of A49G and C60T polymorphisms of CTLA4 gene in populati...

Background: Decreased serum adiponectin levels are associated with obesity and peripheral insulin resistance (IR). PCOS is characterized by hyperandrogenism and chronic anovulation and frequently is associated to IR. Some defects of Insulin Receptor have been proposed as mechanisms to explain ovarian hyperandrogenism in PCOS.Objectives: To explore adiponectin levels in adolescents with PCOS and to evaluate if adiponectin would identify potential patients...

Background: Puberty is associated with a physiological decline in insulin sensitivity. Overweight and obesity are common among girls with Central Precocious Puberty (CPP). CPP and early menarche have been considered as risk factors for obesity and cardiovascular diseases during adulthood. Besides, concern has been raised by the potential impact of GnRH analogues (GnRH-a) treatment on body weight and metabolic profile.Objective and hypotheses: To evaluate...

Background: Obesity and unfavorable metabolic profile (insulin resistance and/or dyslipidemia) are frequently observed in Polycystic Ovarian Syndrome in Adolescents (PCOS) girls regardless of weight.Objective and hypotheses: To evaluate clinical features and metabolic profile in PCOS adolescents, before, during and after Oral Contraceptive (OC) treatment.Method: We performed a retrospective study on 51 girls with PCOS diagnosed acc...

Background: The degree of suppression of the pituitary-ovarian axis in girls with central precocious puberty (CPP) under GnRH analogue (GnRHa) treatment is usually assessed at pituitary levels. However, the extent of ovarian function suppression under GnRHa treatment has not been evaluated.Objective: To evaluate ovarian activity in CPP girls before and during treatment with GnRHa.Patients and methods: In this prospective study, 11 ...

Introduction: The prevalence of PCOS in adolescents and young women was established at 4.3%. Whether women with a history of ICPP are at increased risk for PCOS is still controversial. There is no clear evidence that ICPP girls treated with GnRH analogues (GnRHa) are more likely to develop PCOS than their age-matched peers.Objectives: To assess the prevalence of PCOS in adolescents with a history of ICPP and further comp...

Introducción: Beckwith-Wiedemann syndrome (BWS) is a congenital disorder that includes features such as overgrowth, macroglossia, abdominal wall defects, neonatal hyperinsulinism, lateralized overgrowth and predisposition to embryonal tumors during infancy. BWS may be clinically diagnosed by a scoring system and genetic diagnosis is mainly focused to imprinting disorders on the 11p15.5 region. The presence of pathogenic inactivating variants on the mate...

The obesity epidemic continues to be a dramatic problem in the developed world despite attempts to curtail its rise. Reducing energy intake and/or increasing energy expenditure can result in weight loss; however, if one returns to their poor lifestyle habits the previous weight is not only recuperated, but often surpassed.We hypothesized that although a normal body weight may be achieved, the hypothalamic circuits controlling appetite and energy expendit...