Results 81 to 90 of about 14,603 (207)

A boy or a girl? : Parental, family and whanau information needs when a child is born with an intersex/DSD condition : a thesis presented in fulfilment of the requirements for the degree of MPHIL in Nursing at Massey University, Auckland, New Zealand [PDF]

open access: yes, 2008
Is it a girl or a boy? This is a question that new parents assume will be answered at the birth, or even in the months leading up to the birth of their baby.
McCarthy, Gabrielle Leigh
core  

A rare case of adult-onset spastic paraparesis associated with Klinefelter syndrome

open access: yesBMC Neurology
Report The rare association of Klinefelter syndrome and the clinical presentation of a late onset chronic progressive spastic paresis. Clinical Presentation and Genetics An infertile, 61-year-old man, presented with late adult onset of gait problems ...
Louise Adams, Jan De Bleecker
doaj   +1 more source

The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation

open access: yesThe Turkish Journal of Pediatrics, 2013
Multiple pterygium syndrome is characterized by a number of phenotypic features, small stature, webbing of the neck, elbows, and/or knees, and joint contractures.
Banu Güzel Nur   +4 more
doaj  

Premature pubarche in a child with abnormal 3β‐hydroxysteroid dehydrogenase function and Klinefelter syndrome: the intriguing relationship between androgen deficiency and excess

open access: yesClinical Case Reports, 2017
Key Clinical Message Disorders of androgen excess may coexist with disorders of androgen deficiency, such as Klinefelter syndrome, and can create diagnostic and therapeutic challenges.
Michele Gortakowski   +3 more
doaj   +1 more source

Unsuspected Klinefelter syndrome mosaicism presenting as osteoporosis: a case report

open access: yesArchives of Medical Science, 2006
Hypogonadism secondary to genetic disorders like Klinefelter syndrome has been described as a cause of male osteoporosis, but the diagnosis is frequently missed or delayed because the clinical features are often subtle or at times normal.
Raj Mithun   +5 more
doaj  

Bilateral congenital cataracts in an infant with Klinefelter syndrome

open access: yesThe Turkish Journal of Pediatrics, 2014
Congenital cataract is one of the most treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of approximately 2.5:10,000 infants under the age of 1 year.
Banu Güzel Nur   +5 more
doaj  

Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran

open access: yesEgyptian Journal of Medical Human Genetics
Background Genetic disorders are common in the Eastern Mediterranean region due to the high prevalence of consanguineous marriages. This study explores the awareness and attitudes of pregnant women in Mashhad, the biggest city in northeastern Iran ...
Nafiseh Todarbary   +4 more
doaj   +1 more source

Synchronous bilateral breast cancer in a patient with Klinefelter’s syndrome

open access: yesInternational Journal of General Medicine, 2009
H M R Hoque, A Kothari, H Hamed, I S FentimanHedley Atkins Breast Unit, Guys’ Hospital, London, UKAbstract: Synchronous bilateral male breast cancer (MBC) is rare and only a few cases have been reported in the literature.
H M R Hoque   +3 more
doaj  

A case of double aneuploidy of Down and Klinefelter syndrome in an Indian infant: a detailed case report

open access: yesEgyptian Journal of Medical Human Genetics
Background A variation in the number of chromosomes can lead to chromosomal disorders. These chromosomal aberrations might be related to autosomes or sex chromosomes.
Sunny Kumar Jignesh Kumar Patel   +2 more
doaj   +1 more source

Klinefelter Syndrome

open access: yesArchives of Pathology and Laboratory Medicine, 1999
H F, Mark, D, Alter, P, Mousseau
openaire   +2 more sources

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