Results 31 to 40 of about 1,355 (166)

Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review [PDF]

BMC Pediatrics
Background Swyer syndrome (SS), or 46, XY pure gonadal dysgenesis, is a rare disorder of sex development. It typically presents with primary amenorrhea and an absence of secondary sexual characteristics.
Alireza Sadeghi, Romina Rezaei, Zahra Razavi, Amir Mohammad Salehi, Arash Dehghan   +4 more
doaj   +2 more sources

Swyer Syndrome : A Case Report with Literature Review

Journal of Nepal Medical Association, 2012
Gonadoblastomas are known to develop in dysgenetic gonads, especially so, if Y chromosome material is present. A 20-years- old girl who noticed breast development since the age of 12 years presented with primary amenorhoea, distension of lower abdomen ...
R Patnayak, V Suresh, A Jena, B Vijayalakshmi, AP Reddy, M Rukumangadha, A Sachan   +6 more
doaj   +2 more sources

Swyer Syndrome: Clinical Case of Gonadal Dysgenesis in a 15-year-old Girl

Педиатрическая фармакология
Swyer syndrome is a rare genetic disorder in which gonadal dysgenesis and karyotype 46, XY are observed. In the postnatal and prepubescent period, this disease has no clinical manifestations and is asymptomatic, which makes diagnosis difficult. The first
Irina V. Karachentsova, Elena V. Sibirskaya, Tatyana G. Dyadik, Mariia Yu. Chernysheva, Kristina A. Osmanova, Varvara M. Golubkova, Anna V. Arutunyan, Angelina A. Sysoeva   +7 more
doaj   +2 more sources

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   +2 more sources

Advanced-Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity. [PDF]

Case Rep Med
Introduction Swyer syndrome is a genetic abnormality characterized by a 46,XY karyotype in a phenotypically female individual. Affected individuals typically have average or tall stature, unambiguous genitalia at birth, the presence of Müllerian structures, and bilateral streak gonads.
Oğlak SC, Söğütçü N, Akgöl S, Adıgüzel Ö, Ateş Eminoğlu HE, Güzel G, Balcı V, Acar E, Acar A, Bozan F.   +9 more
europepmc   +2 more sources

Dexmedetomidine-esketamine combination for anesthesia in a patient with severe Swyer-James-Macleod syndrome: a case report [PDF]

BMC Anesthesiology
Background Swyer-James-Macleod Syndrome (SJMS) is a rare respiratory disease usually caused by obliterative bronchiolitis since childhood and characterized by expiratory air trapping, hypoxia-induced parenchymal destruction, pulmonary hypoperfusion, and ...
Hao-Tian Rong, Xian Su, Dong-Xin Wang
doaj   +2 more sources

Swyer James MacLeod Syndrome: A rare cause of recurrent respiratory infections case report [PDF]

Respiratory Medicine Case Reports
Swyer-James-MacLeod Syndrome (SJMS) is a rare pulmonary disorder that is often underdiagnosed or misdiagnosed, leading to delays in appropriate management.
Mustafa Sahid Mahamoud, Morten Hornemann Borg, Ole Hilberg, Anders Løkke Ottesen   +3 more
doaj   +2 more sources

An Interesting Association with Pulmonary Hypertension: Swyer-James-Macleod Syndrome

International Journal of the Cardiovascular Academy
Pulmonary hypertension (PH) is a chronic disease that has increased awareness in recent years and has high morbidity and mortality. There are many unexplained points outside the current PH classification.
Ahmet Taha Şahin, Yakup Alsancak, Ali Aktaş, Mehmet Akif Düzenli, Celalettin Korkmaz   +4 more
doaj   +2 more sources

46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya. [PDF]

Clin Case Rep
ABSTRACT Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular ...
Omoaghe C.
europepmc   +2 more sources

Characterisation of eight cattle with Swyer syndrome by whole‐genome sequencing [PDF]

, 2022
Swyer syndrome is where an individual has the karyotype of a typical male yet is phenotypically a female. The lack of a (functional) SRY gene located on the Y‐chromosome is implicated in some cases of the Swyer syndrome, although many Swyer individuals ...
Carthy, Tara R., Emily K. Herman, Mathews, Daragh, Jim O'Donovan, O'Donovan, Jim, Rebecca Jennings, Nahid Bandi‐Kenari, O'Connor, Rebecca E., Stothard, Paul, Paul Stothard, Berry, Donagh P., Jennings, Rebecca, Rebecca E. O'Connor, Mee, John F., Donagh P. Berry, Tara R. Carthy, Herman, Emily K., Bandi‐Kenari, Nahid, John F. Mee, Daragh Matthews   +19 more
core   +1 more source