hrp0089p3-p346 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Ovotesticular Disorder of Sexual Development: 31 Cases Followed-up in a Single-Center in Brazil

Melardi Julia , Cunha Diego , Ferreira Marianna , Brigatti Nathalia , Carvalho Filomena , Cominato Louise , Steinmetz Leandra , Damiani Durval

The Ovotesticular Disorder of Sexual Development (OT DSD) is a rare condition characterized by histologic demonstration of both ovarian and testicular tissue in the same individual. Descriptions in literature usually have small samples and do not include patient evolution data. The aim of this study is to describe clinical, biochemical and histological findings, as well as long-term outcomes (including onset and progression of puberty) in patients with OT DSD, accompanied betw...

hrp0086p2-p542 | Fat Metabolism and Obesity P2 | ESPE2016

Obstructive Sleep Apnea Syndrome in Early Childhood: Case Report

Rachid Ludmilla , Queiroz Edjane , Cominato Louise , Rocha Ruth , Ybarra Marina , Steinmetz Leandra , Semer Beatriz , Menezes Filho Hamilton , Damiani Durval

Background: Obstructive sleep apnea syndrome (OSAS) in children is a common medical disorder, often associated with adenoid and tonsil hypertrophy. The prevalence of OSAS has been increasing due to alarming rates of obesity in childhood. This is a very concerning subject since there is a higher risk of cardiovascular outcomes in patients with elevated BMI and OSAS.Objective and hypotheses: The aim of this study is to report a hazardous case regarding chi...

hrp0086p2-p69 | Adrenal P2 | ESPE2016

Exaggerated Adrenarche and Exogenous Obesity: A Diagnostic Challenge

Ferreira Marianna , Semmer Beatriz , Queiroz Edjane , Brigatti Nathalia , Pinheiro Claudia , Athayde Debora , Steinmetz Leandra , Cominato Louise , Menezes Filho Hamilton , Kupperman Hilton , Setian Nuvarte , Damiani Durval

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...

hrp0086p2-p436 | Gonads & DSD P2 | ESPE2016

Mixed Gonadal Disgenesia: Patients of Instituto da Criança, HC-FMUSP

Ferreira Marianna , Pinheiro Claudia , Queiroz Edjane , Brigatti Nathalia , Ito Simone , Steinmetz Leandra , Cominato Louise , Setian Nuvarte , Dichtchekenian Vae , Filho Hamilton Menezes , Manna Thais Della , Damiani Durval

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 ...

hrp0086p1-p471 | Fat Metabolism and Obesity P1 | ESPE2016

Improved Clinical and Laboratory Changes after 12 Months of Use of Metformin in Obese Insulin Resistant Children and Adolescents

Cominato Louise , Rocha Ruth , Renie Oliveira Rachid Ludmilla , Filgueiras Vilaca Duarte Nathalia , Cinquini Freitas Franco Natalia , Ybarra Marina , Steinmetz Leandra , Damiani Durval

Background: Childhood obesity is one of the most prevalent and challenging health care concerns. In this context, insulin resistance (IR) is an important disorder with strong association with metabolic (type 2 diabetes, hypercholesterolemia) and cardiovascular (hypertension, atherosclerosis) outcomes. Clinical trials have been showing Metformin as an effective drug on reducing the IR and BMI. However, there is little data on use of metformin in children....

hrp0082p2-d2-582 | Sex Development (1) | ESPE2014

Down Syndrome and Disorders of Sex Development: Only Coincidence or More?

Pupo Joyce , dos Santos Tiago Jeronimo , Steinmetz Leandra , Cominato Louise , Manna Thais Della , Filho Hamilton Menezes , Kuperman Hilton , Dichtchekenian Vae , Setian Nuvarte , Damiani Durval

Introduction: Down syndrome (DS) is a common condition and its association with disorders of sex development (DSD) is quite rare.Case report: We report four DS patients with DSD. Patient 1: 22 days old, undefined sex. 2.5 cm phallus, non-palpable gonads, and perineal urethra. Testosterone=332 ng/dl (at 1 mo), uterus on ultrasound, 47,XY +21 karyotype. A gonadoblastoma on the left gonad and a streak on the right. Dx – DSD Mixed Gonadal Dysgenesis. Pa...

hrp0082p3-d3-694 | Bone (2) | ESPE2014

McCune–Albright Syndrome Associated to Hypophosphatemic Rickets

dos Santos Tiago Jeronimo , Passone Caroline , Filho Hamilton Menezes , Kuperman Hilton , Manna Thais Della , Steinmetz Leandra , Cominato Louise , Dichtchekenian Vae , Pupo Joyce , Setian Nuvarte , Damiani Durval

Introduction: McCune–Albright syndrome (MAS) is a genetic disorder characterized by constitutive activation of Gsα, resulting in excessive activity of multiple hormones. The most known clinical characteristics are the presence of polyostotic fibrous dysplasia (FD), hyperpigmented skin spots, and gonadotropin-independent precocious puberty (PP). However, other endocrine manifestations can be found like hypophosphatemic rickets due to FGF-23-induced renal phosphate was...

hrp0082p3-d1-910 | Pituitary | ESPE2014

Central Diabetes Insipidus Caused by Congenital Cytomegalovirus: a Rare Association?

dos Santos Tiago Jeronimo , Passone Caroline , Steinmetz Leandra , Cominato Louise , Kuperman Hilton , Manna Thais Della , Filho Hamilton Menezes , Dichtchekenian Vae , Pupo Joyce , Setian Nuvarte , Damiani Durval

Introduction: Central diabetes insipidus (CDI) is a condition in which large volumes of diluted urine are excreted due to vasopressin deficiency. In most patients, DI is caused by the destruction of neurons in the hypothalamus and the known causes include local inflammation or autoimmune aggression, vascular and infiltrative diseases, as well as compressive masses, trauma or midline cranial malformations. CDI caused by cytomegalovirus (CMV) infection is a very rare condition.<...

hrp0084p2-484 | Hypo | ESPE2015

Challenged Diagnosis on Hypoglycaemia: Hirata Disease X Factitious Hypoglycaemia

dos Santos Tiago Jeronimo , Passone Caroline , Ito Simone , Savoldelli Roberta , Kuperman Hilton , Filho Hamilton Cabral de Menezes , Steinmetz Leandra , Dichtchekenian Vae , Manna Thais Della , Damiani Durval

Introduction: The Insulin Autoimmune Syndrome (IAS or Hirata Disease) is rare among children. Non-ketotic hyperinsulinaemic hypoglycemia and the presence of insulin auto-antibody (IAA) are the conditions to diagnose the syndrome. The occurrence of hypoglycemia is due to the binding of the antibody to the insulin molecule at the immediate postprandial, followed by this binomial dissociation, which releases free insulin on serum and triggers symptomatic hypoglycaemia.<p clas...

hrp0095lb18 | Late Breaking | ESPE2022

Efficacy of liquid-chromatography and radioimmunoassay in false-positives’ drop-off in CAH newborn screening

Carvalho Daniel , Lima-Valassi Helena , Alves Atecla , Miranda Mirela , Rodrigues Andressa , Hayashi Giselle , Madureira Guiomar , Steinmetz Leandra , Damiani Durval , Mendonca Berenice , Bachega Tania

The high rate of false-positive (FP) results in congenital adrenal hyperplasia newborn screening (CAH-NBS) worldwide challenges NBS-programs and reinforces the need of high specificity subsequent tests. Few studies assessed the efficacy of different serum steroids by the available methodologies. Serum 21-deoxycortisol-21DF demonstrated a high diagnostic accuracy in CAH children/adults but was not evaluated in the NBS context. Objective: to evaluate the efficacy of confirmatory...