ESPE Abstracts

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...

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...

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...

Introduction: Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism caused by an activating variant of the thyroid stimulating hormone receptor (TSHR) gene. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. The severity of hyperthyroid symptoms is variable and phenotype differences have been described in subjects harbouring the same mutati...

Background: The initiation of puberty is dependent upon an augmentation of gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Development of the GnRH neuroendocrine network in embryonic life depends on coordinated migration of neurons from the vomeronasal organ in the nose to the forebrain. We have previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the ...

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: P450 oxidoreductase (POR) mutations can present with disordered sexual development (46,XX virilisation as well as 46,XY under-masculinisation), perturbed steroidogenesis and mild to severe skeletal malformations. As POR is an obligate electron donating cofactor to many P450s, and as this interaction may vary from partner to partner, the phenotypic spectrum of PORD is extremely broad. Therefore, to characterize novel POR mutations, specific testing is required.<...

Background: The exaggerated adrenarche is an extreme variant of the maturation of the adrenal cortex, often associated with hyperinsulinemia and obesity. Hyperandrogenism by congenital adrenal hyperplasia (CAH) and adrenal neoplasms are differential diagnoses.Case report: Male, 8 years and 3 months, who came from another service with diagnosis of Precocious Puberty and Obesity, already being treated with Leuprolide acetate for 1 year and half. His compla...

Background: Mixed gonadal dysgenesis (MGD) is a heterogeneous group of gonadal, chromosomal and phenotypic abnormalities. The diagnosis is based on the presence of testicular tissue and streak.Objective and hypotheses: Casuistics description of patients with MGD in our hospital.Method: A retrospective analysis of medical records.Results: We studied 15 patients. The age at first visit ranged from two weeks to ...