hrp0082p2-d1-565 | Sex Development | ESPE2014

Novel NR5A1 Gene Mutations Associated with 46,XY Disorders of Sex Development

Fabbri Helena , de Andrade Juliana Gabriel Ribeiro , Maciel-Guerra Andrea Trevas , Guerra-Junior Gil , de Mello Maricilda Palandi

Background: Disorders of sex development (DSD) characterize incomplete or disorganized genital or gonadal development. One in 4500 births requires genetic and endocrine studies due to abnormal external genitalia or gonadal dysgenesis and only 50% of the cases receive a definitive diagnosis. There are several genes that participate in both sex determination and differentiation processes. Mutations in NR5A1 gene, which encoding SF1, a transcription factor, are responsib...

hrp0086p1-p355 | Gonads & DSD P1 | ESPE2016

Mutations at the SF-1 Ligand-Binding Domain Can Lead to Different Effects on DNA Binding: Report of Two Novel Mutations

Fabbri Helena Campos , Werner Ralf , Guerra-Junior Gil , Maciel-Guerra Andrea Trevas , Andrade Juliana Gabriel Ribeiro de , Hiort Olaf , Mello Maricilda Palandi de

Background: Steroidogenic factor-1 (SF-1), denominated as nuclear receptor subfamily five group A member 1 (NR5A1), is an orphan receptor that regulates several steps of adrenal and gonadal development. Mutations in its gene are responsible for different phenotypes of disorders of sex development (DSD).Objective and hypotheses: To study the functional impact of two novel NR5A1 mutations, the p.C247* and p.K396Rfs*34, both identified within the l...

hrp0086p1-p361 | Gonads & DSD P1 | ESPE2016

Partial and Mixed Gonadal Dysgenesis Cannot be Distinguished by Histological Picture: Clinical Evaluation, Histological Differences and Long-Term Follow up of 61 Brazilian Patients

de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , dos Santos Ana Paula , de Faria Antonia Paula Marques , Mello Maricilda Palandi , Guerra-Junior Gil , Maciel-Guerra Andrea Trevas

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...

hrp0082lbp-d3-1001 | (1) | ESPE2014

Histological Evaluation of Patients with Partial Gonadal Dysgenesis and NR5A1 Mutations: Review in Leydig and Germ Cell Pattern

de Andrade Juliana Gabriel Ribeiro , Werner Ralf , Fabbri Helena Campos , Guerra-Junior Gil , Maciel-Guerra Andrea Trevas , de Mello Maricilda Palandi , Holl-Ulrich Konstanze , Hiort Olaf

Background: Recent data describe that the gonads of patients with partial gonadal dysgenesis (PGD) and mutation in the NR5A1 gene can present with a different histological pattern.Objective and hypotheses: To evaluate histological aspects of PGD caused by NR5A1 mutations.Method: Five patients with PGD, a history of gonadal biopsy or gonadectomy and confirmed mutation on NR5A1 gene were selected from a Bra...

hrp0086p1-p337 | Gonads & DSD P1 | ESPE2016

46,XY Partial Gonadal Dysgenesis Caused by an Xp21.2 Interstitial Duplication that Does not Encompass the NR0B1 Gene

dos Santos Ana Paula , Piveta Cristiane dos Santos Cruz , de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , Lopes Vera Lucia Gil da Silva , Junior Gil Guerra , Guerra Andrea Trevas Maciel , Mello Maricilda Palandi

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

hrp0086p1-p352 | Gonads & DSD P1 | ESPE2016

A Multicenter Study on Long-Term Outcomes in 56 Males with 45,X/46,XY Mosaicism

Johansen Marie Lindhardt , Acerini Carlo , Andrade Juliana , Balsamo Antonio , Cools Martine , Cuccaro Rieko Tadokoro , Darendeliler Feyza , Fluck Christa E , Grinspon Romina , Guran Tulay , Hannema Sabine , Lucas-Herald Angela K , Hiort Olaf , Lichiardopol Corina , Ortolano Rita , Riedl Stefan , Ahmed S Faisal , Juul Anders

Background: 45,X/46,XY mosaicism is a rare karyotype with a broad phenotypic variation. In patients with a male or predominantly male phenotype, impaired genital development and statural growth have been observed, but little is known about long-term outcomes. Larger multicenter studies are needed.Objective and hypotheses: The aim of this study is to investigate long-term outcomes, namely gonadal function, growth and co-morbidities, in a larger group of m...

hrp0095fc6.3 | Sex Development and Gonads | ESPE2022

Gonadal morphology in 46,XY gonadal dysgenesis: I-DSD Registry-based study

Tadokoro-Cuccaro Rieko , Hughes Ieuan , Cools Martine , van de Vijver Koen , Bilharinho de Mendonça Berenice , Domenice Sorahia , L Batista Rafael , Thomazini Dallago Renata , Lisboa Gomes Nathalia , Costa Elaine F. , Maciel-Guerra Andréa T. , Guerra-Junior Gil , Gabriel Ribeiro de Andrade Juliana , Lucas-Herald Angela , Bryce Jillian , Hannema Sabine , Juul Anders , Globa Eugenia , MсElreavey Kenneth , Baronio Federico , Lopez Dacal Jimena , Darendeliler Feyza , Poyrazoglu Sukran , Kolesińska Zofia , Niedziela Marek , Claahsen – van der Grinten Hedi L. , van den Akke Erica L.T. , Herrmann Gloria , Atapattu Navoda , Jain Vandana , Sharma Rajni , Bettendorf Markus , Konrad Daniel , Martin Holterhus Paul , Fica Simona , Skae Mars , Russo Gianni , Rita Stancampiano Marianna , Gazdagh Gabriella , H Davies Justin , Mohamed Zainaba , Nimali Seneviratne Sumudu , Guran Tulay , GÜVEN Ayla , Wasniewska Malgorzata , Mladenov Vilhelm , Verkauskas Gilvydas , Markosyan Renata , Korbonits Marta , Faisal Ahmed S , Hiort Olaf , Wagner Isabel , Thankamony Ajay

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...