hrp0082p3-d1-877 | Perinatal and Neonatal Endocrinology | ESPE2014

Congenital Hyperinsulinism: Clinical and Molecular Characteristics of Brazilian Patients

Liberatore Raphael , Martinelli Carlos , Guerra Gil , Manna Thais Della , Silva Ivani

Background: Congenital hyperinsulinism (CH) is the most common cause of persistent hypoglycemia in neonatal period. The inadequate secretion of insulin leads to high morbidity and mortality in those newborns. Despite the recent progress in the diagnosis and management of CH, until recently, the situation in Brazil has been that of early 1990’s. The epidemiology is unknown and state-of-the art management has not been available.Objective and hypothese...

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...

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...

hrp0086p2-p436 | Gonads &amp; 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 ...

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.<...

hrp0082p3-d3-653 | Autoimmune Endocrine Disease | ESPE2014

Late Endocrine Effects in Children and Adolescentes Submitted to Allogenic Bone Marrow Transplantation

Kuperman Hilton , Pinchiari Lilian Argentino , Medrado Caroline Kupsch , Battistin Claudilene , Manna Thais Della , Dichtchkenian Vae , de Menezes Filho Hamilton Cabral , Steinmetz Leandra , Cominato Louise , Fernandes Juliana Folloni , Cristofani Lilian Maria , Filho Vicente Odone , Damiani Durval

Background: Pediatric bone marrow transplantation (BMT) can lead to endocrine dysfunctions due to common pre-operative regimens involving chemo and radiotherapy.Objective and hypotheses: To evaluate the prevalence an time-of-onset of endocrine dysfunctions after BMT in children and adolescents.Method: A retrospective cohort-study design was performed. The inclusion criteria were: <18 years of age at the time of their allogenic ...

hrp0084p3-785 | DSD | ESPE2015

Recurrent Orchitis in a Patient with True Hermaphroditism

de Souza Leticia Guimaraes , Berrutti Barbara , Junior Jose Antonio Diniz Faria , Ybarra Marina , Steinmetz Leandra , Cominato Louise , Filho Hamilton de Cabral Menezes , Kuperman Hilton , Manna Thais Della , Damiani Durval

Background: Ovotesticular Disorder of Sex Development (OTDSD – true hermaphroditism) is rare, characterized by the presence of both presence of both testis and ovay tissue. Usually, these patients seek medical attention due to ambiguous genitalia.Case presentation: A 15-year-old boy, with ‘atypical’ genitalia and breast enlargement came for surgical correction. His genitalia had a more masculine aspect at birth and he had been submitted to...

hrp0084p3-1159 | Puberty | ESPE2015

Testotoxicosis: Be Careful to Predict the Final Height!

Souza Leticia Guimaraes de , Bastos Paula de Magalhaes Velasco , Pinheiro Claudia Teixeira Cabido , Steinmetz Leandra , Cominato Louise , Dichtchekenian Vae , Manna Thais Della , Kuperman Hilton , Filho Hamilton de Cabral MEnezes , Damiani Durval

Background: Familial male-limited precocious puberty, known as testotoxicosis, is an autosomal dominant disease that leads to the activation of luteinizing hormone receptor. It presents with progressive virilization, advanced bone age and linear growth acceleration and may lead to loss in predicted adult height. We report the case of a patient diagnosed with testotoxicosis at two years of age.Case presentation: Two-year-old boy with penis enlargement and...

hrp0084p3-818 | Endocrine Oncology | ESPE2015

Endocrine Evaluation in Children and Adolescents Submitted to Allogeneic Bone Marrow Tranplantation

Kuperman Hilton , Manna Thais Della , Dichtchkenian Vae , Filho Hamilton Cabral de Menezes , Steinmetz Leandra , Cominato Louise , Fernandes Juliana Folloni , Mandelli Angela , Mantovani Luiz Fernando , Zanichelli Maria Aparecida , Colassanti Maria Dulce , Cristofani Lilian Maria , Filho Vicente Odone , Damiani Durval

Background: Paediatric bone marrow transplantation (BMT) can lead to endocrine dysfunctions due to common pre-procedure protocols involving chemo and radiotherapy.Objective and hypotheses: To evaluate the prevalence and time-of-onset of endocrine dysfunctions after BMT in children and adolescents.Method: A retrospective cohort-study design was performed. The inclusion criteria were: age range less than 18 years old at the time of t...