hrp0082p1-d1-207 | Reproduction | ESPE2014

Analysis of the WDR11 Gene in Patients with Isolated Hypogonadotropic Hypogonadism with and without Olfactory Defects

Silveira Leticia FG , Montenegro Luciana R , Costa Elaine MF , Latronico Ana C

Background: The WDR11 gene was recently involved in the pathogenesis of isolated hypogonadotropic hypogonadism (IHH). In 2010, Kim et al. (1) identified five different heterozygous missense WDR11 rare variants in six of 201 IHH patients (five normosmic IHH and one Kallmann syndrome), which were absent in more than 400 controls. Animal studies demonstrated that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfacto...

hrp0082p2-d3-557 | Puberty and Neuroendocrinology (2) | ESPE2014

Mutational Analysis of TAC and TACR3 in Idiopathic Central Precocious Puberty

Krstevska-Konstantinova Marina , Jovanovska Jana , Slaveska Nevenka , Tasik Velibor , Montenegro Luciana Ribeiro , Beneduzzi Daiane , Silveira Leticia Gontijo , Gucev Zoran

Background: The genetic background of idiopathic central precocious puberty (ICPP) is not well understood. The genetic activation of pubertal onset is thought to arise from the effect of multiple genes. Familial ICPP have been reported suggesting the existence of monogenic causes of ICPP. The neurokinin B (NKB) system has recently been implicated in the regulation of the human reproductive axis, but how NKB system exerts its effects on the central neuroendocrine control of hum...

hrp0082p1-d1-136 | Growth | ESPE2014

A Homozygous Point Mutation in the GH1 Promoter (−161T>C) Leads to Reduced GH Expression in Siblings with Isolated GH Deficiency

Madeira Joao , Martin Regina , Montenegro Luciana , Franca Marcela , Costalonga Everlayny , Correa Fernanda , Otto Aline , Arnhold Ivo , Freitas Helayne , Machado Ubiratan , Mendonca Berenice , Jorge Alexander , Carvalho Luciani

Introduction: Mutations in the GH1 promoter are a rare cause of isolated GH deficiency (IGHD). In order to find the molecular cause of short stature due to IGHD, three siblings (2 M) born to consanguineous parents without mutations in the GHRHR and GH1 coding regions were screened for mutations in the GH1 promoter and locus control region. All patients harbored two variants (c.−123T>C and −161C>T) in homozygous state in the GH1 promoter, not found in 100 co...

hrp0092rfc8.2 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Investigation of Imprinting Alterations in MKRN3 and DLK1 in a Cohort of Girls with Central Precocious Puberty Through Specific DNA Methylation Analysis

Canton Ana , Steunou Virginie , Brito Vinicius , Laure Sobrier Marie , Montenegro Luciana , Bessa Danielle , Mendonca Berenice B , Netchine Irène , Latronico Ana Claudia

Background: Loss of imprinting has been implicated in the pathogenesis of several human diseases. Monogenic causes of central precocious puberty (CPP) were identified in families with loss-of-function mutations in two paternally expressed imprinted genes: Makorin zinc finger 3 (MKRN3) and Delta-like 1 homolog (DLK1). The role of imprinting defects in CPP has not been described so far.Objective: To inves...

hrp0089rfc9.1 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Clinical and Genetic Features of Central Precocious Puberty Associated with Complex Phenotypes

Canton Ana , Brito Vinicius , Montenegro Luciana , Ramos Carolina , Macedo Delanie , Bessa Danielle , Cunha Marina , Jorge Alexander , Mendonca Berenice , Latronico Ana Claudia

Background: Idiopathic central precocious puberty (CPP) is mostly described as an isolated entity. A few studies have shown its association with clinical syndromes and rare cases of chromosomal abnormalities.Objective: To clinically characterize patients with CPP, pointing out prevalent associated conditions and phenotypes.Patients and Methods: One hundred and forty-five patients with idiopathic CPP were retrospectively evaluated. ...

hrp0092p1-135 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Combining Clinical and Genetic Approaches in Diagnosing a Large Brazilian Cohort of Patients with 46,XY Differences of Sex Development (DSD)

Gomes Nathalia Lisboa , Batista Rafael Loch , Nishi Mirian Y , Marcondes Antonio , Silva Tatiane E. , Funari Mariana , Faria Júnior José Antônio Diniz , Silva Daniela Moraes , Montenegro Luciana , Frade Costa Elaine Maria , Jorge Alexander Augusto , Domenice Sorahia , Mendonca Berenice Bilharinho

Background: Most published studies on 46,XY DSD focused on genetic findings without association with biochemical work-up.Objectives: To retrospectively analyze the clinical and genetic findings of a large cohort of 46,XY DSD patients.Methods: 285 non-syndromic 46,XY DSD individuals (192 sporadic and 89 familial cases) were studied. LH, FSH, testosterone (T), androstenedione (A) wer...

hrp0084p3-1120 | Pituitary | ESPE2015

Description of Patients Diagnosed with Central Diabetes Insipidus, 14 Year Experience at the National Children’s Hospital, Costa Rica

Cavallo-Aita Fred , Montenegro-Villalobos Jiulliana

Background: Diabetes insipidus is a heterogeneous clinical syndrome involving an alteration in water balance. When caused by a deficiency in the production of antidiuretic hormone (ADH) it’s called central diabetes insipidus (CDI). It is difficult to establish the cause of CDI in a good proportion of patients and thus classified as idiopathic in 10.4–55.2%, according to various studies. There are no previous studies in our population.Objective ...

hrp0089p2-p053 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Follow-up on Bone Health in Children with Acute Lymphoblastic Leukemia (ALL)

Brenzoni Luciana , Cassinelli Hamilton , Bergada Ignacio

Background: Acute lymphoblastic leukemia (ALL) is the most common paediatric cancer. Skeletal morbidity has been recognized as a complication of ALL and its treatment, occurring at diagnosis, during chemotherapy and/or years later.Aim: To describe the adversely effect on bone health, in terms of vertebral fractures (VF) and bone mineral density (BMD), in the follow-up of children with ALL.Design, patients and methods: Descriptive a...

hrp0092p1-82 | GH and IGFs | ESPE2019

Positive Impact on Adherence Through Educational Activities of the Argentina´s Patient Support Program in Children with low Adherence to Treatment with Recombinant Growth Hormone (easypod applicator)

Assefi Aria Reza , Chareca Cinthia , Roca Fernanda , Rubstein Adrian , Ayala Luciana Celis , Von Schulz Hausmann Cristian

Background: One of the main concerns in patients with growth disorders is to achieve optimal adherence to growth hormone (GH) treatment. For this it is important to identify patients with low adherence to treatment and to evaluate actions to improve it.The Merck Patient Support Program (PSP) carried out educational actions aimed at patients with low adherence and their parents, to raise their awareness of the importance of good adherence...

hrp0082p2-d3-404 | Fat Metabolism & Obesity (2) | ESPE2014

Cystic Fibrosis: Dyslipidemia in Brazilian Children

Araujo Ana Catarina , Bezerra Ana Cristina , Monte Luciana , Moreira Cristina , Abdalla Andrea

Background: Cystic fibrosis is associated with abnormal lipid metabolism and this anormality is commonly characterized by low cholesterol and hypertriglyceridemia. The increasing in life expectancy of cystic fibrosis patients has enhancing the interest for prevent the risk factors for cardiovascular diseases like dyslipidemias.Objective and hypotheses: Determine whether concentrations of cholesterol and triacylglycerol are related to nutritional status a...