ESPE Abstracts

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

Background: Loss of imprinting has been implicated in the pathogenesis of several human diseases. Monogenic causes of central precocious puberty (CPP) were identified in families with loss-of-function mutations in two paternally expressed imprinted genes: Makorin zinc finger 3 (MKRN3) and Delta-like 1 homolog (DLK1). The role of imprinting defects in CPP has not been described so far.Objective: To inves...

Background: Idiopathic central precocious puberty (CPP) is mostly described as an isolated entity. A few studies have shown its association with clinical syndromes and rare cases of chromosomal abnormalities.Objective: To clinically characterize patients with CPP, pointing out prevalent associated conditions and phenotypes.Patients and Methods: One hundred and forty-five patients with idiopathic CPP were retrospectively evaluated. ...

Background: Outcomes related to sexual life are poorly explored in 46,XY DSD patients and most studies focus only in 46,XX DSD (CAH). In 46,XY DSD the observations of sexual outcomes are scares, but they overall indicate that the SexQoL is impaired, particularly regarding sexual function and sexual satisfaction.Objective and hypotheses: To evaluate sexual outcomes in a cohort of patients with 46,XY in adulthood and compare these observations with the res...

Background: Few studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD).Objective and hypotheses: Our aim was to evaluate QoL in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre.Method: Subjects: adult DSD patients (56 patients with 46,XX DSD – 49 with female social sex and seven with male social sex as well as 88 patients with 46,XY DSD &#15...

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

Introduction: McCune-Albright Syndrome (MAS) is a rare congenital disorder caused by post-zygotic activating mutations in GNAS gene. Due to the mosaic pattern of this disease, mutation abundance is frequently low in several tissues, including blood cells. The emergence of next-generation sequencing (NGS) methodologies has allowed the analysis of millions of DNA fragments simultaneously and independently, enabling detection of low mutation abundance. Aim: To es...

Background: Genetic causes of central precocious puberty (CPP) has been increasingly recognized, extending our knowledge of the triggering factors of human pubertal timing. Distinct etiologies remain to be elucidated in sporadic and familial cases. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated protein that can activate or repress gene transcription, playing a role in neuronal maturation. It is encoded by MECP2 gene located at chromoso...