Results 111 to 120 of about 1,228,636 (220)

Klinefelter Syndrome: association between hormonal, ultrasound and testicular histologic parameters

reservedLa sindrome di Klinefelter (KS) rappresenta la più comune anomalia dei cromosomi sessuali nella popolazione maschile, nonché la principale causa di ipogonadismo maschile.
PACHERA, MATILDE
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

Case Report: Congenital Adrenal Hyperplasia in a man with Klinefelter Syndrome

, 2000
Case Report of a patient with coexisting congenital Adrenal Hyperplasia and Klinefelter Syndrome. The coexistence of a condition of androgen excess masked most of the features of the androgen deficiency due to the Klinefelter ...
Antonio R. M. Granata, ROCHIRA, Vincenzo, Antonio Balestrieri, MADEO, Bruno, CARANI, Cesare   +4 more
core  

Rare Association of Sensorimotor Polyneuropathy and Klinefelter Syndrome (47,XXY): Case Report

, 2011
<i>Objectives:</i> To describe a case with the rare association of Klinefelter syndrome (47,XXY) and peripheral sensorimotor polyneuropathy.
K. Gkiatas, E. Kararizou, A.F. Mentis, P. Davaki   +3 more
core   +1 more source

\u3cem\u3eIn Reply\u3c/em\u3e: Klinefelter Syndrome and Fire-Setting Behavior

, 1989
We appreciate the comments of Dr Eberle that provide further anecdotal experience for an association between Klinefelter syndrome and fire-setting behavior.
Sulkes, Stephen, Miller, Marvin E.
core   +2 more sources

Case Report: congenital adrenal hyperplasia in a man with Klinefelter Syndrome

, 1998
Case Report of a patient with coexisting congenital Adrenal Hyperplasia and Klinefelter Syndrome. Andregen excess due to adrenal dysfunction masked the signs and symptoms of hypogonadism due to Klinefelter ...
MARRAMA, Paolo, ROCHIRA, Vincenzo, Raffaella Mantovani, Antonio Balestrieri, Beniamino Coppa, Augusto Baldini, Monica Bevini   +6 more
core  

Optic Atrophy as a Presenting Sign of Suprasellar Germinoma in a Patient With Klinefelter\u27s Syndrome

, 2013
Klinefelter\u27s syndrome is the most common chromosomal disorder associated with male hypogonadism and infertility,Occurring in approximately 1 in 1000 male ...
Iris Krashin-Bichler; Adi Brener; Anat Kesler
core  

Evaluation of organ-specific autoantibodies in a large cohort of patients with Klinefelter Syndrome

reservedIntroduzione La sindrome di Klinefelter (SK) è la più comune causa genetica di infertilità maschile ed è caratterizzata dalla presenza di uno o più cromosomi X sovrannumerari e da un quadro di ipogonadismo ipergonadotropo.
PAGANOTTO, CHIARA
core  

A cross-sectional online survey of quality of life in adults with Klinefelter syndrome in the UK. [PDF]

Endocr Connect
Mehmet B, Dwyer AA, Jayasena CN, Gillard S, Llahana S.   +4 more
europepmc   +1 more source

Understanding the Neuropsychological Implications of Klinefelter Syndrome in Pediatric Populations: Current Perspectives

Klinefelter syndrome (KS), also known as 47,XXY, is a genetic disorder characterized by the presence of an extra X chromosome. Despite the prevalence of verbal learning disabilities, memory impairments, and executive function deficits in individuals with
Vaitsa Giannouli, Panagiota Tragantzopoulou, Tragantzopoulou, P., Giannouli, V.   +3 more
core   +1 more source