Results 91 to 100 of about 14,603 (207)

Case report [PDF]

, 2009
A 44 year-old man with a history of recurrent deep vein thromboses and pulmonary embolism was admitted to the hospital with bilateral pulmonary emboli and an acute, non-occlusive DVT of the left common femoral vein.
Moylan, Kyle
core  

Azoospermia: a Genomic Review [PDF]

, 2017
Azoospermia or the absence of sperm in semen is one of the sperm disorders that results in male infertility. There are two types of azoospermia, the first one isazoospermia caused by obstruction of the vas deferens (obstructive azoospermia) and the ...
Larasati, M. D. (Manggiasih), lestari, S. W. (Silvia)   +1 more
core  

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

Clinical Case Reports
We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina   +5 more
doaj   +1 more source

Klinefelter Syndrome – Etiology, Clinical Presentation and Modern Approaches to the Diagnosis and Treatment: A Literature Review

Journal of Education, Health and Sport
Introduction: Klinefelter syndrome is the most common chromosomal abnormality in males, characterized by the presence of an extra X chromosome, resulting in 47, XXY karyotype. Its prevalence is approximately 1 in 500 to 1 in 1,000 live-born males.
Katarzyna Kupczyk, Mikhail Kazachok, Szymon Paruszewski, Aleksandra Dybcio, Mikołaj Jońca, Natasza Kurys, Dorota Szydłowska, Adam Kubisa, Mateusz Miluski, Julia Kupczak   +9 more
doaj   +1 more source

What screening tests should you use to evaluate a man with low testosterone? [PDF]

, 2008
Obtain a repeat morning testosterone level, as well as levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), and prolactin to help understand the cause of low testosterone when there is a lack of adequate empiric evidence to guide ...
Jackman, Robert P., Judkins, Dolores Zegar   +1 more
core  

Intersex and Families: Supporting Family Members With Intersex Variations [PDF]

, 2017
People with intersex variations have congenital atypical sex characteristics (chromosomal, hormonal, and/or anatomical) and receive protection against discrimination in only three countries globally; these include Australia, where the case study on which
Jones, Tiffany
core   +1 more source

Chromosomal disorders and male infertility [PDF]

, 2015
Male factor infertility is considered a complex disorder with a largely unknown etiology that affects about 7% of men. In general, genetic abnormalities account for 15%-30% of condition and Y chromosome microdeletions are also frequent.
Alves, C., Ambrósio, P., Brito, F., Caetano, I., Correia, H., Geraldes, M.C., Gonçalves, J., Marques, B., Pedro, S., Serafim, S., Silva, M., Simão, L.   +11 more
core  

Assessing gonadal hormone contributions to affective psychopathologies across humans and animal models [PDF]

, 2014
Dohanich, GP, Grissom, EM, Müller, Sven
core   +1 more source

Mapping the current landscape of Klinefelter Syndrome registries: a scoping review. [PDF]

BMJ Open
Stephenson F, Morris A, Arulkkumaran N, Lorenzo A, Mehta S, Cotton A, Yap T.   +6 more
europepmc   +1 more source

Klinefelter syndrome in a Holstein-Friesian bull: a case report. [PDF]

Ir Vet J
Kelly ET, Sheehan D, Cassidy JP, O Meara CM, Corridan D, Ryan CA, Berry DP, Collins A, Rathje CC, Beltman ME.   +9 more
europepmc   +1 more source