Results 51 to 60 of about 1,355 (166)

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

GPNMB immunohistochemistry is a useful ancillary tool for the diagnosis of pulmonary lymphangioleiomyomatosis

Histopathology, Volume 88, Issue 3, Page 698-709, February 2026.
We evaluated the diagnostic utility of GPNMB immunohistochemistry in LAM. GPNMB showed strong expression in LAM cells, while the differential diagnostic mimics showed no or only low expression. Based on its 100% sensitivity and specificity in our cohort, GPNMB is a highly reliable immunohistochemical marker for the diagnosis of LAM.
Fatime Szalai, Judit Pápay, Katalin Dezső, Levente Kuthi, Anna Sebestyén, András Khoór, Ildikó Krencz   +6 more
wiley   +1 more source

Swyer syndrome (46, XY complete gonadal dysgenesis): A rare case of primary amenorrhea

Philippine Journal of Obstetrics and Gynecology, 2022
Swyer syndrome is a type of gonadal dysgenesis wherein a 46, XY karyotype presents with a female phenotype. It is a rare cause of disorder in sexual development that occurs in 1:100,000 births. Local studies are currently limited to few case reports. Sex-
Pamela Maria P. Mallari, Sherry L. Carlos-Navarro   +1 more
doaj   +1 more source

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source

Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell‐free DNA screening

Journal of Genetic Counseling, Volume 34, Issue 5, October 2025.
Abstract Cell‐free DNA screening (cfDNA), also referred to as noninvasive prenatal screening (NIPS), is utilized to screen for fetal chromosomal aneuploidies during pregnancy, including sex chromosome aneuploidies (SCAs). All patients within our center are offered diagnostic testing following a positive cfDNA for an SCA, but not all patients pursue ...
Cali FitzGerald, Shama P. Khan, Pranali Shingala, Gary Heiman, Elena Ashkinadze   +4 more
wiley   +1 more source

Biology and Management of Male‐Bodied Athletes in Elite Female Sports

Drug Testing and Analysis, Volume 17, Issue 9, Page 1703-1714, September 2025.
Graphical representation of the relationships of transgender and XY DSDF as male‐bodied athletes along the binary dimensions of biological sex. ABSTRACT The physical advantages in elite power sports that allow men to surpass women are derived from the experience of male puberty.
David J. Handelsman, Stéphane Bermon
wiley   +1 more source

Sertoli cell tumor associated with ovarian sex cord tumor with annular tubules in a patient with 46 XY disorder of sex development and 9p24.3 deletion, case report

Journal of Obstetrics and Gynaecology Research, Volume 51, Issue 8, August 2025.
Abstract We report a rare case involving a 22‐year‐old phenotypically female patient who presented to our care with primary amenorrhea and spontaneous breast development. Hormonal analysis indicated hypergonadotropic hypogonadism, and imaging revealed a hypoplastic uterus and calcified ovaries.
Tabatha Petrillo, Christian Battipaglia, Elisa Semprini, Cinzia Baldessari, Marta Pirola, Olga Calabrese, Antonino Farulla, Giliana Ternelli, Albino Eccher, Laura Botticelli, Alessandro D. Genazzani   +10 more
wiley   +1 more source

Swyer-James (Macleod) Syndrome: A Case Report [PDF]

, 2009
İnönü Üniversitesi Tıp Fakültesi Dergisi 16 (2) 101-103 (2009)42 yaşında erkek hasta nefes darlığı ve öksürük şikayetleri ile başvurdu. Posterior Anterior (PA) akciğer grafisinde sol akciğerde belirgin havalanma artışı mevcut olan hastaya, ventilasyon ...
Hacıevliyagil, Süleyman Savaş, Mutlu, Levent Cem, Yumrutepe, Tuncay, Gülbaş, Gazi, Günen, Hakan   +4 more
core   +1 more source

Breathing With Half a Pulmonary Circuit: Three Cases of Unilateral Pulmonary Artery Agenesis

Respirology Case Reports, Volume 13, Issue 7, July 2025.
We present three cases of unilateral pulmonary artery atresia (UPAA) with varying clinical presentations and radiological findings, highlighting the diverse manifestations of this rare condition and discussing the current understanding of its pathophysiology, diagnostic approaches, and management strategies. ABSTRACT Unilateral pulmonary artery atresia
Vignesh Kumar Kathiresan, Benjamin Earnest Williams, V. S. Aswith Chowdary Jonnalagadda   +2 more
wiley   +1 more source

Genomic technologies and the diagnosis of 46, XY differences of sex development

Andrology, Volume 13, Issue 5, Page 1025-1043, July 2025.
Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris, Andrew H. Sinclair, Katie L. Ayers   +2 more
wiley   +1 more source