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Klinefelter syndrome.
Smyth CM, Bremner WJ. Smyth CM, et al. Arch Intern Med. 1998 Jun 22;158(12):1309-14. doi: 10.1001/archinte.158.12.1309. Arch Intern Med. 1998. PMID: 9645824 Review.
Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. ...
Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair …
Chromosomal variants in klinefelter syndrome.
Frühmesser A, Kotzot D. Frühmesser A, et al. Sex Dev. 2011;5(3):109-23. doi: 10.1159/000327324. Epub 2011 Apr 29. Sex Dev. 2011. PMID: 21540567 Free article. Review.
The typical symptoms are a tall stature, narrow shoulders, broad hips, sparse body hair, gynecomastia, small testes, absent spermatogenesis, normal to moderately reduced Leydig cell function, increased secretion of follicle-stimulating hormone, androgen defic …
The typical symptoms are a tall stature, narrow shoulders, broad hips, sparse body hair, gynecomastia, small testes, ab …
Klinefelter syndrome in clinical practice.
Bojesen A, Gravholt CH. Bojesen A, et al. Nat Clin Pract Urol. 2007 Apr;4(4):192-204. doi: 10.1038/ncpuro0775. Nat Clin Pract Urol. 2007. PMID: 17415352 Review.
The 'prototypic' man with Klinefelter syndrome has traditionally been described as tall, with narrow shoulders, broad hips, sparse body hair, gynecomastia, small testicles, androgen deficiency, azoospermia and decreased verbal intelligence. ...
The 'prototypic' man with Klinefelter syndrome has traditionally been described as tall, with narrow shoulders, broad hips, sparse …
Tooth Development Associated with Mutations in Hereditary Vitamin D-Resistant Rickets.
Hanna AE, Sanjad S, Andary R, Nemer G, Ghafari JG. Hanna AE, et al. JDR Clin Trans Res. 2018 Jan;3(1):28-34. doi: 10.1177/2380084417732510. Epub 2017 Sep 20. JDR Clin Trans Res. 2018. PMID: 30938651
The disease is characterized by refractory hypocalcemia, elevated serum levels of 1,25-dihydroxy-vitamin D, retarded growth, sparse body hair (sometimes alopecia), premature tooth loss, enlarged pulp chambers, thin dentine, and hypoplastic enamel. ...
The disease is characterized by refractory hypocalcemia, elevated serum levels of 1,25-dihydroxy-vitamin D, retarded growth, sparse …
A new total body scanning system for automatic change detection in multiple pigmented skin lesions.
Korotkov K, Quintana J, Puig S, Malvehy J, Garcia R. Korotkov K, et al. IEEE Trans Med Imaging. 2015 Jan;34(1):317-38. doi: 10.1109/TMI.2014.2357715. Epub 2014 Sep 12. IEEE Trans Med Imaging. 2015. PMID: 25222947
The maps produced relate images of individual lesions with their locations on the patient's body, solving the body-to-image and image-to-image correspondence problem in TBSEs. Currently, the scanner is limited to patients with sparse body hair and, for a comp …
The maps produced relate images of individual lesions with their locations on the patient's body, solving the body-to-image and image-to-ima …
Testicular cancer in a patient with Primrose syndrome.
Mathijssen IB, van Hasselt-van der Velde J, Hennekam RC. Mathijssen IB, et al. Eur J Med Genet. 2006 Mar-Apr;49(2):127-33. doi: 10.1016/j.ejmg.2005.06.001. Epub 2005 Jun 23. Eur J Med Genet. 2006. PMID: 16530709 Review.
A mentally retarded, adult man was found to have joint contractures, sparse body hair, hearing loss, dysmorphic facial features, large calcified pinnae and a huge torus palatinus. ...
A mentally retarded, adult man was found to have joint contractures, sparse body hair, hearing loss, dysmorphic facial …
Hyperprolactinaemia in males: a heterogeneous disorder.
Walsh JP, Pullan PT. Walsh JP, et al. Aust N Z J Med. 1997 Aug;27(4):385-90. doi: 10.1111/j.1445-5994.1997.tb02196.x. Aust N Z J Med. 1997. PMID: 9448878
On physical examination, galactorrhoea was present in 8% of patients, gynaecomastia in 23% and abnormally sparse body hair in 21%. Testicular volume was normal (> or = 15 mL) in all but two patients, both of whom had evidence of delayed pubertal developmen …
On physical examination, galactorrhoea was present in 8% of patients, gynaecomastia in 23% and abnormally sparse body hair …
A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter variant with morbid obesity.
Kim Y, Kim WJ, Huh JH, Lee S, Kim D, Hong JW, Lee EJ. Kim Y, et al. Yonsei Med J. 2013 Mar 1;54(2):538-40. doi: 10.3349/ymj.2013.54.2.538. Yonsei Med J. 2013. PMID: 23364994 Free PMC article.
We report the case of a 35-yr-old man with hypogonadism and morbid obesity and diabetes mellitus. He had gynecomastia, small testes and penis, very sparse body hair and his body mass index was 44.85. He did not report experiencing broken voice and was able to …
We report the case of a 35-yr-old man with hypogonadism and morbid obesity and diabetes mellitus. He had gynecomastia, small testes and peni …