Results 21 to 30 of about 591 (138)

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development

Biomolecules, 2023
Gonadal development is the first step in human reproduction. Aberrant gonadal development during the fetal period is a major cause of disorders/differences of sex development (DSD).
Atsushi Hattori, Maki Fukami
doaj   +1 more source

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

Journal of Pediatric Research, 2022
The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome.
Özge Köprülü, Sezer Acar, Kadri Murat Erdoğan, Özlem Nalbantoğlu, Tarık Kırkgöz, Gülçin Arslan, Beyhan Özkaya, Yaşar Bekir Kutbay, Behzat Özkan   +8 more
doaj   +1 more source

Dermatologic care of patients with differences of sex development

International Journal of Women's Dermatology, 2023
Background:. Differences of sex development (DSD or disorders of sex development) are uncommon congenital conditions, characterized by atypical development of chromosomal, gonadal, or anatomic sex. Objective:.
Sarah Gold, BA, Christina Huang, BS, Rakan Radi, MD, Pranav Gupta, MBBS, Eric I. Felner, MD, MS, Jeehea Sonya Haw, MD, Krista Childress, MD, Nancy Sokkary, MD, Vin Tangpricha, MD, PhD, Michael Goodman, MD, MPH, Howa Yeung, MD, MSc   +10 more
doaj   +1 more source

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

Acta Obstetricia et Gynecologica Scandinavica, Volume 102, Issue 8, Page 1053-1062, August 2023., 2023
Optical genome mapping reached 97.8% concordant clinical diagnosis with standard‐of‐care methods for all chromosomal aberrations by a singular testing platform, suggesting that optical genome mapping has the potential to become a promising cytogenetic tool for prenatal diagnosis.
Qinxin Zhang, Yan Wang, Yiyun Xu, Ran Zhou, Mingtao Huang, Fengchang Qiao, Lulu Meng, An Liu, Jing Zhou, Li Li, Xiuqing Ji, Zhengfeng Xu, Ping Hu   +12 more
wiley   +1 more source

Inherited deletion of 9p22.3‐p24.3 and duplication of 18p11.31‐p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes

Journal of Cellular and Molecular Medicine, Volume 27, Issue 4, Page 496-505, February 2023., 2023
Abstract We describe a 3.5‐year‐old Iranian female child and her affected 10‐month‐old brother with a maternally inherited derivative chromosome 9 [der(9)]. The postnatally detected rearrangement was finely characterized by aCGH analysis, which revealed a 15.056 Mb deletion of 9p22.3‐p24.3p22.3 encompassing 14 OMIM morbid genes such as DOCK8, KANK1 ...
Naser Ajami, Mohammad Amin Kerachian, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Susan Hosseini, Peter N. Robinson, Mohammad Reza Abbaszadegan   +6 more
wiley   +1 more source

Masculinizing surgery in disorders/differences of sex development: clinician‐ and participant‐evaluated appearance and function

BJU International, Volume 129, Issue 3, Page 394-405, March 2022., 2022
Objectives To report the long‐term follow‐up outcomes of masculinizing surgery in disorders/differences of sex development (DSD), including both physicians' and patients’ perspectives on appearance and functional outcome, including sexuality. Patients and Methods In total, 1040 adolescents (age ≥16 years) and adults with a DSD took part in this ...
Tim C. van de Grift, Marion Rapp, Gundela Holmdahl, Lise Duranteau, Agneta Nordenskjold, on behalf of the dsd‐LIFE group, Birgit Kohler, Uta Neumann, Peggy Cohen‐Kettenis, Baudewijntje Kreukels, Annelou de Vries, Wiebke Arlt, Claudia Wiesemann, Jolanta Slowikowska‐Hilczer, Ute Thyen, Marion Rapp, Aude Brac de la Perriere, Charles Sultan, Francoise Paris, Nicole Reisch, Annette Richter‐Unruh, Hedi Claahsen–van der Grinten, Claire Bouvattier, Lise Duranteau, Anna Nordenström, Agneta Nordenskjöld, Catherine Pienkowski, Maria Szarras‐Czapnik   +27 more
wiley   +1 more source

An Unusual Clinical and Radiological Presentation of Ovotesticular Disorders of Sex Development with Male and Female External Genitalia: A Case Report

European Medical Journal Reproductive Health, 2023
Background: Ovotesticular disorders of sex development (ODSD), previously known as true hermaphroditism, is a rare disorder of sexual differentiation that causes ambiguity in external genitalia and the presence of both ovarian and testicular elements in
Muhammad Tahir Khan, Abeer Yasin, Rewati Raman, Nighat Haroon Khan   +3 more
doaj   +1 more source

Gonadoblastoma with Dysgerminoma Presenting as Virilizing Disorder in a Young Child with 46, XX Karyotype: A Case Report and Review of the Literature

Case Reports in Endocrinology, Volume 2022, Issue 1, 2022., 2022
Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ germ cell malignancy that can be associated with malignant components. The tumor has been reported to almost exclusively develop in various types of gonadal gene mutation syndromes ...
Prathamesh Chandrapattan, Amitabh Jena, Rashmi Patnayak, Swayamsidha Mangaraj, Sujata Naik, Saroj Panda, Osamu Isozaki   +6 more
wiley   +1 more source

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

Clinical Endocrinology, Volume 95, Issue 6, Page 818-840, December 2021., 2021
Abstract It is paramount that any child or adolescent with a suspected difference or disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD and is discussed with the regional DSD service. In most cases, the paediatric endocrinologist within this service acts as
S. Faisal Ahmed, John Achermann, Julie Alderson, Naomi S. Crouch, Sue Elford, Ieuan A. Hughes, Nils Krone, Ruth McGowan, Talat Mushtaq, Stuart O’Toole, Leslie Perry, Martina E. Rodie, Mars Skae, Helen E. Turner   +13 more
wiley   +1 more source

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development

American Journal of Medical Genetics Part A, Volume 185, Issue 9, Page 2782-2788, September 2021., 2021
Abstract Ovotesticular differences of sexual development (OT‐DSD) are rare genetic variances defined by the coexistence of both testicular and ovarian tissues. Various molecular etiologies including SRY translocation or SOX9 pathogenic variants with different modes of inheritance have been associated with 46,XX OT‐DSD.
Zhiyu Qian, Katheryn Grand, Andrew Freedman, Maria C. Nieto, Andrea Behlmann, Bahareh M. Schweiger, Pedro A. Sanchez‐Lara   +6 more
wiley   +1 more source