ESPE Abstracts

Background: Central precocious puberty (CPP) results from activation of the hypothalamic-pituitary-gonadal axis before the age of 8 years in girls and 9 years in boys. The molecular basis of the maturation of this axis is still poorly understood. The MRKN3 gene located in the Prader-Willi syndrome critical region (chromosome 15q11–q13), inhibit factors stimulating pulsative. GnRH secretion. In 2013 inactivating mutations in the MRKN3 gene were discovered...

Background: Cerebral infarction (CI) is a known vascular complication following treatment of suprasellar tumors. Risk factors for CI, incidence rate, and long-term prognosis are unknown for patients with childhood-onset craniopharyngioma (CP).Methods: MRI of 244 CP patients, recruited between 2007 and 2019 in KRANIOPHARYNGEOM 2007, were reviewed for CI. Risk factors for CI and outcome after CI were analyzed.<p class=...

Background: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder with more than 90% of cases caused by defects in the steroid-21 hydroxylase (CYP21A2) gene. Such defects are the main cause of 21-hydroxylase enzyme deficiency that affects the biosynthesis of cortisol and aldosterone. The CYP21A2 gene is part of the RCCX module, which is located on chromosome 6p21.3, in the major histocompatibility complex (MHC) class III reg...

Background: The normal recovery of the hypothalamic–pituitary–gonadal axis after discontinuation of therapy with GNRH analogue for precocious puberty has been proven and documented in the last decades. There has been no report in the literature of patients in which a history of GNRH treatment of precocious puberty is correlated with premature ovarian failure.Objective and hypotheses: The aim of the authors is to evaluate the possibility of a co...

Introduction: Septo-optic dysplasia (SOD) is characterized by a combination of midline forebrain, pituitary and eye abnormalities. We aimed to evaluate endocrine features of patients with SOD, and multiple pituitary hormone deficiencies (MPHD).Design: Retrospective data were collected from 130 patients: 102 SOD and 28 MPHD followed at a single tertiary centre. SOD were divided into two groups: with pituitary hormone deficiencies (SOD+, n=83) and...

Background: Phthalate exposure results in endocrine disruption by inhibiting steroidogenesis, inducing focal dysgenesis and disrupting germ cell development in the rat fetal testis. Whilst phthalate exposure does not reduce testosterone production by the human fetal testis, its effects on germ cells and induction of dysgenetic areas in the developing human testis are less well described.Objective and Hypotheses: To determine the effects of phthalate expo...

Background: Polyuria and polydipsia syndrome (PPS) workup is not straightforward, especially in children. Basal investigations are often not reliable in distinguishing among diabetes insipidus (DI), central (CDI) or nephrogenic (NDI), and primary polydipsia (PP). Water deprivation test (WDT) is often essential, although uncomfortable and not always reliable enough to recognize partial DI. Plasma AVP investigation is not routinely used in the diagnostic pathway...

Introduction: Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 are the most common monogenic form of CPP. Recently, attention was directed to DLK1, another imprinted gene. Defects in this gene resulted to be a rare cause of CPP in girls and adult women with precocious menarche, obesity and metabolic derangement. We aimed to investigate a cohort of female and male p...

Background: The primary goal of GH treatment in GHD children and adolescents is to normalize height, in order to attain an adult height within the target height (TH) range.Aim: to investigate height improvement in GHD paediatric patients treated with GH in our Country.Subjects: 737 patients with isolated GHD (39.5% females) from 13 tertiary Centres for Paediatric Endocrine Care...

Background: Severe congenital growth hormone deficiency (cGHD) is a rare but potentially life-threatening condition. Even though random growth hormone (GH) can confirm cGHD during the first week of life, the diagnosis remains extremely challenging in the absence of reliable reference values in healthy neonates and thus of a best diagnostic cut-off.Aims: First, to provide solid reference values for GH concentrations in te...