Results 71 to 80 of about 3,730,566 (185)

Swyer syndrome: a rare cause of primary amenorrhea

Journal of Rare Diseases, 2023
Purpose Swyer syndrome is one of the rare causes for disorders of sexual development. Case report An 18-year-old girl presented with complaints of inability to attain menarche.
Ujjwala Sandilya, S. Jha
semanticscholar   +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

Swyer Syndrome: An in-Depth Exploration of Phenotypic and Genotypic Features in 46, XY Disorders of Sex Development

International Journal of Medical Science and Clinical Research Studies, 2023
Swyer Syndrome, also known as 46, XY Complete Gonadal Dysgenesis, is a rare and intriguing disorder of sexual development characterized by a phenotypic female appearance in individuals possessing a 46,XY karyotype. This enigmatic condition results from a
Daniela Alejandra Dávila Báez, Valeria Macías Valadez García, Luis Enrique Morales Montoya, Onassis Armando Prado Hernández, Maria Guadalupe Campos Canelo, Leonardo Ramírez Nucamendi   +5 more
semanticscholar   +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

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

Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus [PDF]

, 2013
Swyer syndrome or pure 46, XY gonadal dysgenesis is a condition in which the individuals have female appearance. They classically present as sexually infantile phenotypic females with primary amenorrhoea.
Azidah AK, Aishah MN, Nik Hazlina NH
core  

Swyer-James-McLeod Syndrome [PDF]

, 2015
Admission chest x-ray of an 81 year-old man admitted to the hospital for atrial fibrillation with rapid ventricular response is shown in Figure 1. The chest x-ray shows a unilateral hyperlucent lung, with paucity of peripheral vessels and decreased lung ...
Molnar, MD, Esther, Matthew, MD, Arun, Esther Molnar, Arun Matthew   +3 more
core   +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