Results 61 to 70 of about 2,838 (167)

A clinical approach to diagnosis of ambiguous genitalia

Journal of Indian Association of Pediatric Surgeons, 2019
Disorders of sex development (DSD) are a sensitive and stressful condition for the family as well as the treating physician to deal with. The main issue in managing such cases is sex assignment.
Kashish Khanna, Shilpa Sharma, Devendra K Gupta   +2 more
doaj   +1 more source

Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country

Journal of Biomedicine and Translational Research, 2017
Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper ...
Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto, Sultana MH Faradz   +2 more
doaj   +1 more source

Urodynamics assessment in patients with multiple sclerosis

BJUI Compass, Volume 7, Issue 5, May 2026.
Abstract Objectives The aim of this study is to review initial urodynamics (UDS) findings in patients with multiple sclerosis (MS) related lower urinary tract symptoms, establish where UDS happen in treatment pathways and to evaluate the benefit of video over standard UDS.
Nicholas Faure Walker, Alexandra Bacon, Manisha Teji, Eskinder Solomon, Arun Sahai, Ross Stephens, Emmanuel Okpii, Charlotte Dunford, Sarah Wood, Emily Speck, Ruth Doherty, Angie Rantell, George Araklitis, Lydia Lilis, Tharani Nitkunan, Michelle Carey, Suzanne Biers, Brendan Berry, Mahreen Pakzad, Hashim Hashim   +19 more
wiley   +1 more source

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Maria Francesca Astorino, Serena Scalise, Chiara Di Bella, Maria Angela La Rosa, Basilia Piraino, Marco Calabrò, Mattia Gentile, Rosaria Maddalena Ruggeri, Emanuela Esposito, Silvana Briuglia, Salvatore Cannavò   +10 more
wiley   +1 more source

Early Life Disease Burden and Outcomes in Children Diagnosed With Primary Ciliary Dyskinesia in Infancy

Pediatric Pulmonology, Volume 61, Issue 5, May 2026.
ABSTRACT Background Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder causing chronic oto‐sino‐pulmonary disease from birth. Since diagnosis is often delayed into childhood or adulthood, early‐life disease burdens remain poorly described.
Madhan Kumar, Dvir Gatt, Zofia Zysman‐Colman, José Fontoura‐Matias, Deborah Fertuck, Sharon D. Dell, Fiona E. Kritzinger, Adam J. Shapiro   +7 more
wiley   +1 more source

A Familial X‐Linked Disorder of Sexual Development in Thoroughbred Horses Associated With a Novel Androgen Receptor Splice‐Site Variant

Animal Genetics, Volume 57, Issue 3, June 2026.
Anna Letko, Vidhya Jagannathan, Cord Drögemüller, Gesine Lühken   +3 more
wiley   +1 more source

Criteria of Clinical Diagnostics and Choice of Treatment Strategy in Children with Disoders of Sexual Development [PDF]

Саратовский научно-медицинский журнал, 2010
The number of patients with disorders of sexual development (DSD) has increased in 3.54 times during the last three years. The aim is to define the structure of intersexual disorders in children from Saratov, criteria of gender assignment and surgical ...
N.V. Bolotova, D.A. Morozov, N.U. Raygorodskaya, D.A. Zharkov, M.M. Grigorjeva, E.N. Tsmokalyuk   +5 more
doaj  

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

Frontiers in Genetics, 2019
Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development in general, as well as gonadal and/
Christa E. Flück, Laura Audí, Mónica Fernández-Cancio, Kay-Sara Sauter, Idoia Martinez de LaPiscina, Luis Castaño, Isabel Esteva, Núria Camats   +7 more
doaj   +1 more source

A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature. [PDF]

Genes (Basel), 2023
Aversa T, Luppino G, Corica D, Pepe G, Valenzise M, Coco R, Li Pomi A, Wasniewska M.   +7 more
europepmc   +1 more source

In-depth exploration of differences of sex development: 5-year experience in a tertiary center

Endocrine Connections
Background: Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients.
Mohamed Hssaini, Sana Abourazzak, Ihsane El Otmani, Mohamed Ahakoud, Amina Ameli, Laila Bouguenouch, Hicham Bekkari   +6 more
doaj   +1 more source