Results 111 to 120 of about 3,730,566 (185)

Familial Swyer Syndrome

Familial Swyer syndrome (46, XY complete gonadal dysgenesis) is an uncommon condition marked by a female phenotype in individuals possessing a 46, XY karyotype. This syndrome arises from mutations in genes essential for testis development, particularly the SRY gene.
Soniya Rasheed A, Vargheese Yohannan, Lillykutty Antony   +2 more
openaire   +1 more source

Delayed diagnosis of Swyer‐James‐MacLeod syndrome

Respirology Case Reports
Key message Swyer‐James‐MacLeod Syndrome is a rare obliterative lung disease typically caused by childhood infection resulting in arrested pulmonary development.
Matthew T. Donnan, Eli Dabscheck, Belinda R. Miller, Samantha J. Ellis, Matthew T. Naughton   +4 more
doaj   +1 more source

A 14-year-old girl with primary amenorrhea and 46, XY karyotype: a case of Swyer syndrome

International Journal of Reproduction Contraception Obstetrics and Gynecology
Swyer syndrome (46, XY pure gonadal dysgenesis) is an uncommon condition within the spectrum of disorders of sex development. Individuals are phenotypically female but possess nonfunctional streak gonads and typically fail to undergo spontaneous pubertal
Kunika Shankar Bhanarkar, Reenu Jain
semanticscholar   +1 more source

Different clinical presentations of Swyer Syndrome: case reports

x development caused by mutations in genes located in the Y chromosome. It’s typically described in female individuals with a 46XY karyotype and streak gonads, and it’s normally diagnosed in adolescence because of the absence of menstruation, with or ...
Gomes, Ernane Machado
core  

Swyer-James syndrome with myocardial bridge: a case report

, 2003
Swyer-James syndrome is an uncommon disease with unknown aetiology. It is generally discovered on a chest radiograph as increased translucency involving one hemithorax because of diminished vascular markings.
Topologlu, S, YILMAZ, MEHMET BİRHAN, Akin, Y, Guray, U, Korkmaz, S   +4 more
core   +1 more source

Swyer-James Syndrome

American Journal of Respiratory and Critical Care Medicine, 2018
Kazuki Hamada, Keiji Oishi, Tsunahiko Hirano, Takehiro Shiinoki, Keiko Shibuya, Kazuto Matsunaga   +5 more
openaire   +3 more sources

Ulerythema ophryogenes in association with MAP3K1-mutated Swyer syndrome. [PDF]

JAAD Case Rep, 2022
Nimgaonkar I, Jamgochian M, Milgraum DM, Pappert AS, Milgraum SS.   +4 more
europepmc   +1 more source

Bilateral Gonadoblastoma Overgrown by Dysgerminoma of the Right Gonad in a Patient with Swyer Syndrome. [PDF]

Maedica (Bucur), 2021
Arafa M, Ryiami MA, Shukri MA, Burney I, Mahfouz Y, Al-Kindi N.   +5 more
europepmc   +1 more source

Pulmón hiperlucente

Acta Médica Costarricense, 2007
El pulmón hiperlucente unilateral también se ha denominado síndrome de Swyer-James, síndrome de Macleod o enfisema lobular o unilateral. Es una enfermedad poco frecuente que se caracteriza por una hiperclaridad pulmonar o lobar unilateral asociada a un ...
Florana Jiménez-Gutiérrez, Manuel E Soto-Quirós   +1 more
doaj  

Case Report: Is It Premature Ovarian Insufficiency or Swyer Syndrome After Bone Marrow Transplantation? [PDF]

Front Pediatr, 2021
Li H, Li J, Li X, Yi H, Ren Q, Chen X.
europepmc   +1 more source