Results 111 to 120 of about 1,142,251 (222)

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

Cardiometabolic evaluation in a cohort of patients with Klinefelter Syndrome before and after testosterone replacement therapy

reservedPatients with Klinefelter Syndrome (KS) present different clinical features, including cardiovascular and dysmetabolic conditions. Cardiometabolic indices, such as Visceral Adiposity Index (VAI), Triglyceride Glucose Index (TyG), Lipid ...
GRAZIANI, ANDREA
core  

Abstracts from the 2026 Congress of the Scandinavian Society of Anesthesiology and Intensive Care Medicine, Reykjavik, Iceland, June 10–12, 2026

Acta Anaesthesiologica Scandinavica, Volume 70, Issue 9, October 2026.
wiley   +1 more source

Central precocious puberty in 48,XXYY Klinefelter syndrome variant.

, 1999
We report the first case of central precocious puberty in a patient with 48,XXYY Klinefelter syndrome variant. We also report clinical characteristics, growth pattern, endocrine data and pathological testicular findings.
Battini R, SPINELLI, CLAUDIO, Viacava P, GUERRINI, RENZO, Baroncelli GI, Guerrini R, Bertelloni S, Simi P., Spinelli C, Simi P   +9 more
core  

\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

Early Diagnosis of Klinefelter Syndrome: the Importance of Genetic Counseling [PDF]

Introduction Klinefelter syndrome is associated with a numerical abnormality involving the sex chromosomes, and has an estimated prevalence of 1:660 in live male births. We present here a child with karyotype 48,XXXY/49,XXXXY diagnosed early with genetic
Mesquita Gadelha Prazeres, Vania, Fantin, Cleiton, C Benzaquem, Denise   +2 more
core   +1 more source

Clinical and biological parameters in 362 Klinefelter syndrome subjects: The KING experience

, 2016
Klinefelter syndrome (KS) is a fascinating condition for clinicians and researchers due to the variety of open questions still waiting for an answer.
S. Francavilla, A. Radicioni, A. Ferlin, A. Garolla, E. Jannini, M. Maggi, D. Pasquali, F. Lanfranco, M. Bonomi, G. Corona, L. Vignozzi, A. Pizzocaro, on behalf of the Klinefelter ItaliaN Group, R. Pivonello, C. Foresta, A. E. Calogero, ROCHIRA, Vincenzo, V. A. Giagulli, G. Balercia   +18 more
core  

Congenital Heart Disease in a Paralympic Athlete With Klinefelter Syndrome. [PDF]

JACC Case Rep
Alexandrino FB, Villalonga M, Mehra N, Karamlou T, Ghobrial J, Fuchs M, Singh TK.   +6 more
europepmc   +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 beyond hypogonadism: multisystem manifestations and a framework for clinical surveillance. [PDF]

Front Endocrinol (Lausanne)
Anaforoğlu İ.
europepmc   +1 more source