Results 21 to 30 of about 5,397,667 (244)

Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing

Asian Journal of Andrology, 2021
46,XY disorders of sex development (DSD) is characterized by incomplete masculinization genitalia, with gonadal dysplasia and with/without the presence of Müllerian structures. At least 30 genes related to 46,XY DSD have been found. However, the clinical
Bing-Qing Yu, Zhao-Xiang Liu, Yin-Jie Gao, Xi Wang, Jiang-Feng Mao, Min Nie, Xue-Yan Wu   +6 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Amenorréia primária e cariótipo XY: identificando pacientes em risco Primary amenorrhea and XY karyotype: identifying patients in risk

Revista Brasileira de Ginecologia e Obstetrícia, 2008
OBJETIVO: verificar a prevalência e as características clínicas de pacientes com amenorréia primária e cariótipo XY avaliadas em nosso Serviço com o intuito de identificar achados que possam auxiliar em seu reconhecimento.
Rafael Fabiano Machado Rosa, Raquel Papandreus Dibi, Nadima Vieira Toscani, Leonardo Leiria Moura da Silva, Paulo Ricardo Gazzola Zen, Carla Graziadio, Giorgio Adriano Paskulin   +6 more
doaj   +1 more source

A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene

JCRPE, 2020
Adrenal hypoplasia is a rare congenital disorder. In spite of biochemical and molecular genetic evaluation, etiology in many patients with adrenal hypoplasia is not clear.
Eda Mengen, Aynur Küçükçongar Yavaş, S. Ahmet Uçaktürk   +2 more
doaj   +1 more source

Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1

Orphanet Journal of Rare Diseases, 2021
Background Dozens of genes are involved in 46, XY differences in sex development (DSD). Notably, about 3/4 of patients cannot make a clear etiology diagnosis and single gene variant identified cannot fully explain the clinical heterogeneity of 46, XY DSD.
Yiping Cheng, Jing Chen, Xinli Zhou, Jiangfei Yang, Yiming Ji, Chao Xu   +5 more
doaj   +1 more source

Evidence‐Informed Multidisciplinary Consensus Guidance for the Psychosocial Care of Adolescents With High‐Risk Cancer: Recommendations From the Italian Association of Pediatric Hematology and Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Adolescents with high‐risk cancer face complex developmental, psychosocial, and ethical challenges that extend beyond disease‐directed treatment. Although international recommendations exist for communication, psychosocial care, pediatric palliative care, survivorship, and shared decision‐making, these have largely evolved within ...
Johanna M. C. Blom, Dorella Scarponi, Giulia Zucchetti, Teresa Perillo, Maria Montanaro, Elisa Marconi, Chiara Rutigliano, Paolo Colavero, Paola Quarello, Marina Bertolotti, Monica Cellini, Carlo Clerici, Maurizio Mascarin, Francesca Bomben, Andrea Ferrari, the expert workgroup   +15 more
wiley   +1 more source

Phenotypic variability and management of patients with mosaic monosomy X and Y chromosome material: a case series

Italian Journal of Pediatrics
Background we aim to discuss the origin and the differences of the phenotypic features and the management care of rare form of disorder of sex development due to Mosaic monosomy X and Y chromosome materiel.
Myriam Ben Fredj, Marwa Messaoud, Sabrine Ben Youssef, Salma Mani, Syrine Laaribi, Rania Sakka, Hayet Ben Hmida, Amine Ksiaa, Mongi Mekki, Mohsen Belghith, Lassaad Sahnoun   +10 more
doaj   +1 more source

Bridging the Loneliness Gap: Depression, Connectivity, and Isolation in Pediatric Oncology Patients and Their Peers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Loneliness is associated with adverse physical and mental health outcomes and remains understudied in children and adolescents undergoing cancer therapy. Pediatric oncology patients may be at increased risk due to medical isolation and disruption of social networks.
Charlotte N. Stahlfeld, Scott H. Maurer, Michelle D. Watkinson, John Nury, Elise Barberis, Molly C. Mack   +5 more
wiley   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Testicular differentiation in 46,XX DSD: an overview of genetic causes

Frontiers in Endocrinology
In mammals, the development of male or female gonads from fetal bipotential gonads depends on intricate genetic networks. Changes in dosage or temporal expression of sex-determining genes can lead to differences of gonadal development.
Maria Tereza Martins Ferrari, Elinaelma Suelane do Nascimento Silva, Mirian Yumie Nishi, Rafael Loch Batista, Berenice Bilharinho Mendonca, Berenice Bilharinho Mendonca, Sorahia Domenice   +6 more
doaj   +1 more source