hrp0084p3-801 | DSD | ESPE2015

Pseudo-Precocious Puberty in Androgen Insensitivity Syndrome Secondary to a Prepubertal Oestrogen Producing Sertoli Cell Tumour

Warman Diana Monica , Berensztein Esperanza , Marino Roxana , Ramirez Pablo , Costanzo Mariana , Maceiras Mercedes , Rivarola Marco A , Belgorosky Alicia

Background: Androgen insensitivity syndrome (AIS) is an X-linked hereditary disease with AR gene loss-of-function mutations in 46,XY patients. They undergoes poor development of secondary sex characteristics, except for breast development at puberty. AIS patients are prone to develop germ cell cancer, even though with lower incidence than in dysgenetic gonads secondary to defects in organogenesis.Case presentation: We described a 3-years-old gir...

hrp0092p1-129 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Molecular Diagnosis of Patients with 46,XY Differences in Sex Development in A Single Tertiary Center

Touzon Maria Sol , garrido Natalia Perez , Ramirez Pablo , Marino Roxana , Berensztein Esperanza , Costanzo Mariana , Guercio Gabriela , Rivarola Marco Aurelio , Belgorosky Alicia

Disorders/differences in sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. 46,XY DSD include defects in androgen synthesis or action or complete (CGD)/partial (PGD) gonadal dysgenesis. The aim of this study was to characterize the molecular genetic diagnosis of individuals with 46,XY DSD followed at Garrahan Pediatric Hospital.Medical records of 140 patients (P) followed...

hrp0092p2-259 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Differences of Sex Development with Chromosomal Mosaicism: Histological Characterization and Immunohistochemistry Markers in Gonads During Childhood

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

Sex chromosome disorders, including sex chromosome mosaicism, result in a large clinical spectrum. There is scarce information about the histological pattern of these gonads.Aim: to characterize the histology and cell markers pattern in gonads of patients with chromosomal mosaicism.Gonadal biopsies from thirteen patients with chromosomal mosaicism, including chromosome Y were studied. Six were rearing as male and s...

hrp0089p1-p014 | Adrenals and HPA Axis P1 | ESPE2018

Molecular Characterization of TNXA/TNXB Chimeras in CYP21A2 Gene Deletions: High Frequency of Undiagnosed Ehlers-Danlos Syndrome in Congenital Adrenal Hyperplasia Patients

Marino Roxana , Notaristefano Guillermo , Garrido Natalia Perez , Ramirez Pablo , Touzon Maria Sol , Pujana Matias , Moresco Angelica , Finkielstain Gabriela , Obregon Gabriela , Rivarola Marco A , Belgorosky Alicia

The contiguous gene deletion syndrome, CAH-X, was reported in an 8.5% of Congenital Adrenal Hyperplasia (CAH) patients with a TNXA/TNXB chimera. This results in deletions of CYP21A2 gene, encoding 21-hydroxylase necessary for cortisol biosynthesis, and TNXB, encoding the extracellular matrix glycoprotein tenascin-X (TNX). There are three TNXA/TNXB chimeras (CH1, CH2, CH3) that differ in the junction site, resulting in TNXB haploinsu...

hrp0089p1-p174 | Growth & Syndromes P1 | ESPE2018

Identification of ADAMTS6 as a Novel Candidate Gene for Idiopathic Short Stature with Advanced Bone Maturation

Warman Diana M , Ramirez Pablo , Marino Roxana , Garrido Natalia Perez , Touzon Maria Sol , Pentreath Matias Pujana , Mattone Maria Celeste , Rivarola Marco , Belgorosky Alicia

Aggrecan (ACAN) is the major proteoglycan in the articular cartilage, critical for the structure and function of growth plate cartilage.Case Report: 11-year-old (y) boy admitted at 1.8 y of chronological age (CA), due to poor growth rate Height (H): 76 cm (−2.75 SDS). Initial physical examination: mild dysmorphic features and prepubertal external genitalia (two scrotal testes, 1 cc volume each). Neurologic maturation was normal. Initial bo...

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...

hrp0084p3-1117 | Pituitary | ESPE2015

Two Novel Mutations in GLI2 Gene in Two Unrelated Argentinean Prepuberal Patients, One with Isolated Growth Hormone Deficiency, and Another with Multiple Pituitary Hormone Deficiency, Both with Developmental Defects in Posterior Pituitary Gland

Marino Roxana , Juanes Matias , Ramirez Pablo , Garrido Natalia Perez , Ciaccio Marta , Palma Isabel Di , Maceiras Mercedes , Lazzati Juan Manuel , Rivarola Marco Aurelio , Belgorosky Alicia

Background: Congenital growth hormone deficiency may be isolated (IGHD) or multiple pituitary hormone deficiency (MPHD). The Sonic Hedgehog signalling (SHH) pathway has an important role in the pituitary development and growth, acting early in ventral forebrain. The SHH signalling mediates its effects through three zinc fingers proteins (Gli1, Gli2 and Gli3), which lead to activation or repression of target genes. Several heterozygous GLI2 mutations have been reported in patie...

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...

hrp0086fc7.1 | Gonads & DSD | ESPE2016

Early Loss of Germ Cells in Testis of Androgen Insensitivity Syndrome Patients

Aliberti Paula , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Solari Alberto J. , Sciurano Roberta , Ponzio Roberto , Costanzo Mariana , Guercio Gabriela , Warman Diana M. , Mutti Maria L. Galluzzo , Lubieniecki Fabiana , Bailez Marcela , Rivarola Marco A. , Belgorosky Alicia , Berensztein Esperanza B.

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

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 ...