hrp0082p2-d3-614 | Turner Syndrome | ESPE2014

Aortic Dilation in a Large Cohort of Paediatric and Young Adult Patients with Turner Syndrome

Geniuk Nadia , Vaiani Elisa , Rizzi Ana , Guercio Gabriela , Warman Monica , Michelli Diego , Rivarola Marco , Belgorosky Alicia

Background: Aortic dilation (AD) occurs in Turner syndrome (TS) increasing the risk of aortic dissection at all ages. There are no current guidelines on what specific aortic diameter measurement should provoke concern in pediatric TS. Because of their small stature, an aortic size index (ASI) has been proposed to normalize the ascending aorta (AA) to body size in young adults’ with TS. However, a more reliable index has been also proposed: the ratio of vascular diameter t...

hrp0089p1-p019 | Adrenals and HPA Axis P1 | ESPE2018

The Usefulness of Combined Analysis of Serum and Salivary Maximum Cortisol Response to Low-Dose ACTH Test to Define the Requirement of Hormone Replacement Treatment

Vaiani Elisa , Lazzati Juan Manuel , Maceiras Mercedes , Gil Silvia , Costanzo Mariana , Zaidman Veronica , Dratler Gustavo , Belgorosky Alicia

Introduction: The low-dose synacthen test (LDT) is widely used to assess central adrenal insufficiency (CAI); however, the total serum cortisol (C) cut-off value is controversial. A correct diagnosis of CAI is required, but overdiagnosis may lead to unnecessary hormone replacement therapy. Salivary cortisol (SC) reflects the levels of free serum cortisol and is a noninvasive alternative.Objective: To define a new cut-off value of serum cortisol in pediat...

hrp0092p1-249 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Use of Desmopressin for Bilateral Inferior Petrosal Sinus Sampling (BIPSS) in Pediatric Patients with Cushing Disease (CD)

Gil Silvia , Di Palma Isabel , Vaiani Elisa , Viterbo Gisela , Requejo Flavio , Ramos Javier Gonzalez , Lazzati Juan Manuel , Lubieniecki Fabiana , Rugilo Carlos , Ciaccio Marta

Introduction: BIPSS before and after desmopressin stimulation has been shown to be a useful tool for diagnosis of ACTH-dependent CD and negative magnetic resonance imaging (MRI)or positive MRI but inconsistent biochemical data, in adult patients. However, little is known about its usefulness in pediatric population.Objective: To evaluate the prevalence of negative MRI, the sensitivity of BIPSS before and after desmopress...

hrp0084p2-319 | DSD | ESPE2015

Gonadotropin Surge During the Early Postnatal Activation Period in 46,XX Testicular/Ovotesticular Disorder of Sex Development Patients

Costanzo Mariana , Guercio Gabriela , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Vaiani Elisa , Berensztein Esperanza , Lazzati Juan Manuel , Maceiras Mercedes , Rivarola Marco A , Belgorosky Alicia

Background: During the 1st months of postnatal life serum luteinizing hormone (LH) levels in girls are lower than in boys. The mechanism of this sex difference is not known. It has been proposed that foetal or perinatal androgenic steroids have an effect on the control of LH secretion.Objective and hypotheses: To study the possible influence of high levels of androgens on serum gonadotropins during the 1st months of life in a cohort of nine 46,XX testicu...

hrp0084p2-538 | Puberty | ESPE2015

Plasma Humanin Levels During Normal Childhood and Puberty. Study of Possible Correlations with Sex, Age, and Insulin Levels

Dona Valeria De , Ciaccio Marta , Wan Junxiang , Guercio Gabriela , Vaiani Elisa , Krochik Gabriela , Maceiras Mercedes , Lazzati Juan Manuel , Rivarola Marco , Cohen Pinchas , Belgorosky Alicia

Background: Humanin is a novel signaling peptide which has been showed, by in vitro and in vivo studies, to improve insulin sensitivity. As plasma humanin levels decrease during adulthood, particularly during aging, it has been proposed that the increment of insulin resistance in aging might be associated with lesser humanin plasma values.Objective and hypotheses: The physiological insulin resistance observed during puberty in normal ch...

hrp0089p2-p345 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Histopathologic Characterization of Patients with 46,XX Testicular and Ovotesticular Disorders of Sex Development

Touzon Maria Sol , Mutti Maria Laura Galluzzo , Ramirez Pablo , Garrido Natalia Perez , Marino Roxana , Bailez Marcela , Costanzo Mariana , Guercio Gabriela , Vaiani Elisa , Ciaccio Marta , Rivarola Marco Aurelio , Belgorosky Alicia , Berensztein Esperanza

Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to characterize the histology of 46,XX DSD prepubertal gonads. We studied 25 gonads of fourteen 46,XX DSD patients. The age of biopsy/gonadectomy was 1.17 (0.08–4.17) years (median and range). Molecular studies confirmed the absence of SRY by PCR and/or MLPA in blood samples of all patients and i...

hrp0086p1-p689 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Novel Germline Mutations in DICER1 Gene in Patients with Different Pediatric Hereditary Tumors

Marino Roxana , Galeano Jesica , Ramirez Pablo , Garrido Natalia Perez , Vaiani Elisa , Costanzo Mariana , Herzovich Viviana , Dujovne Noelia , Lubieniecki Fabiana , De la Rosa Laura , Obregon Gabriela , Chantada Guillermo , Aurelio Marco Rivarola , Belgorosky Alicia

Background: Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome, associated with tumors such as pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumors (SLCT), multinodular goiter (MNG), cystic nephroma (CN), embryonal rhabdomyosarcoma (ERMS) or primitive neuroectodermic tumor. DICER1 is involved in the generation of microRNAs (miRNAs), short, double-stranded, non-coding RNAs that modulate gene expression at ...

hrp0082fc6.4 | Gonads & DSD | ESPE2014

Familial 46,XY Complete Female External Sex Development and Primary Amenorrhea Along with Hidden Gonad Tumors, Secondary to a Novel p.met64val SRY Gene Mutation

Vaiani Elisa , Malosetti Carmen , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Berensztain Esperanza , Col Florencia Da , Bailez Marcela , Sala Josefina , Galluzzo Laura , Maceiras Mercedes , Lazzati Juan Manuel , Rivarola Marco , Belgorosky Alicia

Background: The SRY protein is a transcription factor that contains a high mobility group (HMG) homeobox domain which possesses sequence-specific DNA binding activity and regulates other genes involved in male sex determination pathway. The majority of the identified mutations occurred within the HMG-box motif. There are few reports of pedigrees with familial transmission.Objective and Hypotheses: To describe a paternally transmitted novel SRY mutation w...