18-Year-old patient with Klinefelter syndrome (47, XXY) and complete androgen insensitivity syndrome (CAIS) – case report
暂无分享,去创建一个
R. Płoski | R. Smolarczyk | A. Pollak | B. Męczekalski | M. Grymowicz | Maciej Ziółkowski | Marta Teleon | Karolina Skalska | Adrian Skoczylas
[1] R. Płoski,et al. Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit , 2020, Journal of clinical medicine.
[2] Weber Dm,et al. Complete Androgen Insensitivity Syndrome (CAIS) and Karyotype 47, XXY, with Sertoli-Leydig Cell Tumor: Description of a Rare Case , 2019 .
[3] Mostafa El-Feky. Androgen insensitivity syndrome. , 2019, Bailliere's clinical endocrinology and metabolism.
[4] A. Sobczyńska-Tomaszewska,et al. Features of the fetal gonad in androgen synthesis in the postpubertal testis are preserved in complete androgen insensitivity syndrome due to a novel genetic splice site donor variant in androgen receptor gene intron 1 , 2019, The Journal of Steroid Biochemistry and Molecular Biology.
[5] S. Esposito,et al. Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS) , 2019, International journal of environmental research and public health.
[6] D. Sherman,et al. Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia , 2018, Human molecular genetics.
[7] I. Arnhold,et al. Androgen insensitivity syndrome: a review , 2018, Archives of endocrinology and metabolism.
[8] L. Wünsch,et al. Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When? , 2017, Sexual Development.
[9] L. Looijenga,et al. Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome , 2017, Sexual Development.
[10] G. Baroncelli,et al. Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads , 2017, Sexual Development.
[11] C. Foresta,et al. Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations? , 2017, Scientific Reports.
[12] T. Fujiwara,et al. Complete androgen insensitivity syndrome and anti-Müllerian hormone levels before and after laparoscopic gonadectomy , 2016, Gynecology and minimally invasive therapy.
[13] C. Gravholt,et al. Klinefelter syndrome and medical treatment: hypogonadism and beyond , 2015, Hormones.
[14] A. Lteif,et al. Development of the Human Breast , 2013, Seminars in Plastic Surgery.
[15] D. Kotzot,et al. Chromosomal Variants in Klinefelter Syndrome , 2011, Sexual Development.
[16] E. Lemyre,et al. Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype. , 2009, The Journal of pediatrics.
[17] G. Frank. Role of estrogen and androgen in pubertal skeletal physiology. , 2003, Medical and pediatric oncology.
[18] F. E. Eyben. Laboratory Markers and Germ Cell Tumors , 2003 .
[19] P. D. Semple. KLINEFELTER'S SYNDROME , 1977, The Medical journal of Australia.
[20] H. Jones,et al. The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. , 1976, American journal of obstetrics and gynecology.
[21] P. Jacobs,et al. A Case of Human Intersexuality Having a Possible XXY Sex-Determining Mechanism , 1959, Nature.
[22] C. Gravholt,et al. Clinical review: Klinefelter syndrome--a clinical update. , 2013, The Journal of clinical endocrinology and metabolism.
[23] I. Hughes,et al. Androgen resistance. , 2006, Best practice & research. Clinical endocrinology & metabolism.
[24] H. Maibach,et al. Lifetime changes in the vulva and vagina , 2005, Archives of Gynecology and Obstetrics.
[25] F. V. von Eyben. Laboratory markers and germ cell tumors. , 2003, Critical reviews in clinical laboratory sciences.