hrp0089p3-p354 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Emblematic Case CAH

Chahin Silvia , Mejia Federico

Introduction: The National Registry of Civil Status through circular 33 of February 24, 2015 instructed the guidelines for the allocation of a sex through an inscription on the Civil Registry of Birth for intersexual minors.Objective: To create clinical and medical awareness on the importance of making an accurate diagnosis of Congenital Adrenal Hyperplasia CAH in order to avoid adverse effects due the omission of the due diligence by violating of the pr...

hrp0089p3-p355 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

The Republic of Colombia Has a Constitutional Jurisprudential Precedent Identified as T622 of 2014,1 This Sentence Reaffirms the Importance of the Accurate Diagnosis of Intersexual Patients and Updates How the State Looks at Them2

Ferreyra Silvia Cristina Chahin , Alvarez Federico Mejia

Cause: The Colombian Society of Urology published in May 1993; A Modern Approach to Sexual Ambiguity Syndromes which discuses sexual differentiation and sexual disorders associated with sexual development to determine a binary gender with surgical reconstruction.Objective: Gather the members of ACEP (Colombian Association for Pediatric Endocrinology) to clarify, update and create an approach of human sexuality from a biosociocultural pe...

hrp0084p2-425 | GH & IGF | ESPE2015

Comparison of Baseline Parameters and Response to GH Treatment in 125 Children with Short Stature with Eight Different Diagnosis

Ioimo Irene , Mussa Alessandro , Vannelli Silvia , Feyles Francesca , Einaudi Silvia , Matarazzo Patrizia

Background: Response to rhGH treatment is variable among GH deficiency (GHD), GH insensitivity and several intermediate conditions.Aims and objectives: To compare baseline parameters and response to rhGH treatment in eight diagnostic categories of patients with short stature.Methods: We selected 125 prepubertal children presenting at least 2 years of rhGH treatment (mean 5.29 years, range 2–15.6 years), hormonal and clinic par...

hrp0094p1-137 | Growth Hormone and IGFs A | ESPE2021

Persistently increased IGF-I levels and excellent auxological response despite low doses of recombinant growth hormone in a GH-deficient patient with a heterozygous variant of the growth hormone receptor (GHR) gene

Laura Nicolosi Maria , Cattoni Alessandro , Maitz Silvia , Marco Santo Di , Biondi Andrea , Molinari Silvia ,

Introduction: Homozygous loss-of-function mutations of the growth hormone receptor (GHR) gene result in GH insensitivity due to a dysfunctional receptor protein. Heterozygous mutations may result in a variable clinical spectrum ranging from normal height to severe short stature. Gain-of-function variants have been reported rarely.Case Report: We hereby report the case of a Russian boy who was referred to our endocrine o...

hrp0086p1-p130 | Bone & Mineral Metabolism P1 | ESPE2016

Triple X Syndrome: An Evaluation of Bone Mineral Status and Metabolism

Stagi Stefano , Scalini Perla , Di Tommaso Mariarosaria , Parpagnoli Maria , Paci Silvia , Masoni Fabrizio , Chiarelli Francesco , Verrotti Alberto , Guarducci Silvia , Giglio Sabrina , Romano Silvia , de Martino Maurizio

Background: However, no study has considered the effect of a supernumerary X chromosome on bone mineral status and bone metabolism.Objective and hypotheses: To evaluate bone mineral status and metabolism in a cohort of patients with nonmosaic triple X syndrome.Method: Nineteen girls (median age 10.9, range 7.7–15.9 years) with nonmosaic triple X syndrome were cross-sectionally studied and compared to an age- and body-size-matc...

hrp0092p3-17 | Adrenals and HPA Axis | ESPE2019

Newborn Screening for Congenital Adrenal Hyperplasia: Should we Worry more about False Positives or False Negatives?

Ciccone Sara , Pedicelli Stefania , Ventresca Silvia , Desideri Elena , Stella Marcello

Background: Newborn screening for congenital adrenal hyperplasia (CAH) is based on the determination of 17-hydroxyprogesterone (17OHP) on blood and its need is confirmed by the most recent guidelines on the subject. In Italy this screening is not mandatory, and its application is on a regional basis. Among its disadvantages, it is well known the high frequency of false-positives, in particular in premature babies and those born small for gestational age. Howev...

hrp0092p3-43 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

About a Case of Neonatal Hypocalcemia

Belli Gilda , Cecconi Antonella , Romano Silvia , Ciofi Daniele , Stagi Stefano

Background: Neonatal hypocalcemia is a common disorder, occurring more often in premature, low birth weight and asphyxiated infants, as in infants born to mothers with diabetes. Nevertheless its aetiology is heterogeneous ranging from iatrogenic, idiopathic and inherited metabolic abnormalities. Among these, Autosomal Dominant Hypocalcemia (ADH) is a rare syndrome characterized by the presence of inappropriately low concentration of circulating parathyroid hor...

hrp0092p3-277 | Late Breaking Abstracts | ESPE2019

The Role of Urine AVP in the Diagnostic Pathway of Polyuria and Polydipsia Syndrome

Giacomozzi Claudio , Lucchini Giuseppe , Teresa Benatti Maria , Silvia Fasoli

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...

hrp0089p1-p229 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Prevalence of Hypogonadism in Prepubertal Boys with Cryptrochdism

Grinspon Romina P , Bedecarras Patricia , Gottlieb Silvia , Rey Rodolfo A

Introduction: Cryptorchidism has usually been managed using a surgical approach, with little attention to the underlying pathophysiology.Objectives: To assess gonadal function before treatment in prepubertal boys with cryptorchidism.Methods: In a cross-sectional study we reviewed all clinical charts of patients encoded with the diagnosis of cryptorchidism in the database of a paediatric tertiary hospital, between 2000 and 2017. Inc...

hrp0086p2-p186 | Bone & Mineral Metabolism P2 | ESPE2016

Unclear Origin of Avascular Necrosis – Clinical Case

Revenco Ninel , Eremciuc Rodica , Grin Olesea , Bogonovschi Livia , Foca Silvia

Background: Glucocorticoid (GC) treatment is associated with many unwanted effects but osteoporosis and fractures are the most serious adverse events. Several large case–control studies have shown strong associations between exposure to glucocorticoids and the risk of fractures. By other hand, multiple factors have been associated with avascular necrosis (AVN) in systemic lupus erythematosus (SLE), but it is steroid use that has been...