hrp0082p2-d3-612 | Turner Syndrome | ESPE2014

Anti-Mullerian Hormone: a Marker of Premature Ovarian Insufficiency in Girls with Turner Syndrome

Mendes Catarina , Pinho Liliana , Borges Teresa , Oliveira Maria Joao , Cardoso Helena

Background: Turner syndrome (TS) patients typically exhibit short stature and gonadal dysgenesis with pubertal delay and infertility. Up to 30% of these girls will have spontaneous pubertal development, however only 2% achieve a spontaneous pregnancy. Biochemical markers reflecting the ovarian reserve in girls and adolescents with TS are therefore needed.Objective and hypotheses: Evaluation of the ovarian reserve in girls and adolescents with TS using se...

hrp0084p2-290 | Diabetes | ESPE2015

C-Peptide Variation after the Diagnosis of Type 1 Diabetes in Paediatric Age

Correia Joana , Mendes Catarina , Pinheiro Marina , Preto Clara , Cardoso Helena , Oliveira Maria Joao , Borges Teresa

Background: C-peptide secretion is the most accurate measurement of residual β-cell function in type 1 diabetes (T1D) and even residual levels seem to positively correlate with a lower probability of complications.Objective and hypotheses: Identify key determinants to the evolution of the β pancreatic cell function, measured by fasting C-peptide (FCP).Method: Prospective study of patients diagnosed with T1D, with evaluati...

hrp0089p3-p003 | Adrenals and HPA Axis P3 | ESPE2018

Nelson’s Syndrome after Bilateral Adrenalectomy for Cushing’s Disease in Pediatric Age – Report of a Case

Machado Catarina M , Leite Ana L , Sousa Ana , Almeida Lucia , Campos Rosa Armenia , Oliveira Maria Joao , Marques Jorge Sales

Introduction: Nelson’s syndrome is a potentially severe complication of bilateral adrenalectomy, a radical procedure performed in the treatment of hypercortisolism in Cushing’s disease (CD). We report a case of CD in pediatric age submitted to bilateral adrenalectomy with subsequent Nelson’s syndrome.Case report: Male, 5-year-old, referred to a Pediatric outpatient clinic because of growth failure, rapid weight gain and high blood pressure...

hrp0082p2-d2-546 | Puberty and Neuroendocrinology (1) | ESPE2014

Kallmann Syndrome: Diagnosis in Paediatric Age

Machado Angela , Oliveira Maria Joao , Borges Teresa , Cardoso Helena , Fonseca Paula , Ribeiro Luis , Goncalves Catarina , Lemos Manuel

Background: Kallmann syndrome (KS) is a rare clinical entity, characterized by the association of hipogonadotropic hypogonadism and hypo/anosmia, with an estimated prevalence of 1:8000 in males and 1:40 000 in females.Method: Retrospective study of cases of KS diagnosed in paediatric age. Genetic analysis was performed by PCR and DNA sequencing of KAL1, FGFR1, GNRHR, GNRH1, PROK2, PROKR2, KISS1R, TAC3, TACR3, and FGF8 genes.Results...