Klinefelter's syndrome with unilateral absence of vas deferens.

Abstract:

OBJECTIVE:To report a case of Klinefelter's syndrome with unilateral absence of vas deferens. DESIGN:Case report. SETTING:Tertiary-care infertility clinic. PATIENT(S):A 28-year-old man with the complaint of infertility. INTERVENTION(S):None. MAIN OUTCOME MEASURE(S):Physical examination, genetic and hormonal evaluation. RESULT(S):Both testicles were approximately 2 mm, and unilateral vas deferens was not palpable. Hormonal evaluation revealed hypergonadotropism, and genetic studies revealed a 47,XXY karyotype and delta F508 mutation of the cystic fibrosis gene. CONCLUSION(S):To our knowledge there are no previous reports of both conditions (Klinefelter's syndrome and unilateral absence of vas deferens) existing simultaneously. A detailed physical examination seems mandatory for patients seeking treatment for infertility, to determine any possible deleterious health-related condition(s) for both themselves and offspring.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Baydilli N,Gökçe A,Karabulut SY,Ekmekcioglu O

doi

10.1016/j.fertnstert.2010.02.017

subject

Has Abstract

pub_date

2010-09-01 00:00:00

pages

1529.e1-1529.e2

issue

4

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(10)00267-0

journal_volume

94

pub_type

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