Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature.

Literature DB >> 26029310

Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature.

Amr Hodhod¹, Florence Umurangwa¹, Mohamed El-Sherbiny¹.

Abstract

We report a case of 4 months old infant diagnosed as Klinefelter syndrome associated with perineal hypospadias, severe ventral chordee and complete penoscrotal transposition. A review of previous reported cases was carried out. Penoscrotal malformations at birth are very rare in Klinefelter syndrome. Awareness of the current standard indications of Karyotyping can help early detection of these cases.

Entities: Disease Species

Year: 2015 PMID： 26029310 PMCID： PMC4439239 DOI： 10.5489/cuaj.2603

Source DB: PubMed Journal: Can Urol Assoc J ISSN： 1911-6470 Impact factor: 1.862

26 in total

1. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study.

Authors: Anders Bojesen; Svend Juul; Claus Højbjerg Gravholt
Journal: J Clin Endocrinol Metab Date: 2003-02 Impact factor: 5.958

2. Klinefelter's syndrome with prepenile scrotum.

Authors: H Fuse; H Sumiya; M Takahara; Y Shiseki; J Shimazaki
Journal: Urology Date: 1992-11 Impact factor: 2.649

3. [Klinefelter's syndrome and hypospadias (author's transl)].

Authors:
Journal: J Urol Nephrol (Paris) Date: 1976 Oct-Nov

4. Klinefelter syndrome and cryptorchidism.

Authors: Silvia Gottlieb; Rodolfo A Rey; Saul Malozowski
Journal: JAMA Date: 2009-04-08 Impact factor: 56.272

5. Klinefelter's syndrome in identical twins associated with chordee without hypospadias.

Authors: S Ebisuno; T Shinka; T Ohkawa; H Shirakawa; K Miyamura
Journal: J Urol Date: 1977-12 Impact factor: 7.450

6. Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome.

Authors: Judith L Ross; Carole Samango-Sprouse; Najiba Lahlou; Karen Kowal; Frederick F Elder; Andrew Zinn
Journal: Horm Res Date: 2005-08-03

7. Hypospadics in Klinefelter's syndrome.

Authors: J F Jackson; J M Montalvo
Journal: J Urol Date: 1968-09 Impact factor: 7.450

8. Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age.

Authors: Carole A Samango-Sprouse; Teresa Sadeghin; Francine L Mitchell; Teresa Dixon; Emily Stapleton; Madison Kingery; Andrea L Gropman
Journal: Am J Med Genet A Date: 2013-01-23 Impact factor: 2.802

Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature.

1. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study.

2. Klinefelter's syndrome with prepenile scrotum.

3. [Klinefelter's syndrome and hypospadias (author's transl)].

4. Klinefelter syndrome and cryptorchidism.

5. Klinefelter's syndrome in identical twins associated with chordee without hypospadias.

6. Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome.

7. Hypospadics in Klinefelter's syndrome.

8. Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age.

9. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.

10. Unusual presentation of Klinefelter syndrome.

Review 1. Ectopias of the kidney, urinary tract organs, and male genitalia.

Review 2. [Ectopias of the kidney, urinary tract organs, and male genitalia. German version.]