Literature DB >> 26494133

Attitudes of parents of Klinefelter boys and pediatricians towards neonatal screening and fertility preservation techniques in Klinefelter syndrome.

Inge Gies1, Herman Tournaye2,3, Jean De Schepper4.   

Abstract

UNLABELLED: To evaluate the attitude of parents of Klinefelter syndrome (KS) boys and pediatricians with regard to early detection of KS and fertility preservation, a specific questionnaire investigating the acceptability towards neonatal screening for KS and the use of testicular biopsy and sperm collection was designed. The responses of 49 pediatricians and 18 parents were evaluated. All parents and 67% of the pediatricians consider neonatal screening for KS to be a good option. A total of 83.3% of the parents agree on performing a testicular biopsy in their pubertal KS boy, 72.2% are in favor of banking spermatozoa after masturbation while 77.7% agree on spermatozoa banking after penile vibro-stimulation or rectal electro-stimulation under general anesthesia. Sixty-nine percent of pediatricians would counsel parents and KS adolescents in favor of early detection and cryopreservation of spermatozoa after masturbation, and 71.2% agrees on testicular biopsy to detect spermatozoa or eventually spermatogonial stem cells (SSCs) for cryopreservation in minor KS patients.
CONCLUSION: The majority of KS parents and pediatricians, completing a specific designed questionnaire on fertility preservation modalities, were in favor of neonatal screening of KS. Both sperm collection and SSC collection are highly appreciated by parents and pediatricians, despite the currently experimental character of these fertility preservation strategies.

Entities:  

Keywords:  Fertility preservation; Klinefelter syndrome; Neonatal screening; Pubertal

Mesh:

Year:  2015        PMID: 26494133     DOI: 10.1007/s00431-015-2657-7

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  20 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.  Failure of a combined clinical- and hormonal-based strategy to detect early spermatogenesis and retrieve spermatogonial stem cells in 47,XXY boys by single testicular biopsy.

Authors:  I Gies; J De Schepper; D Van Saen; E Anckaert; E Goossens; H Tournaye
Journal:  Hum Reprod       Date:  2012-02-07       Impact factor: 6.918

3.  A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis.

Authors:  Elyssia Bourke; Pamela Snow; Amy Herlihy; David Amor; Sylvia Metcalfe
Journal:  Eur J Hum Genet       Date:  2013-05-22       Impact factor: 4.246

Review 4.  Screening for Klinefelter syndrome.

Authors:  Amy S Herlihy; Robert I McLachlan
Journal:  Curr Opin Endocrinol Diabetes Obes       Date:  2015-06       Impact factor: 3.243

Review 5.  Neuropsychology and socioeconomic aspects of Klinefelter syndrome: new developments.

Authors:  Anne Skakkebæk; Mikkel Wallentin; Claus H Gravholt
Journal:  Curr Opin Endocrinol Diabetes Obes       Date:  2015-06       Impact factor: 3.243

6.  Successful testicular sperm retrieval in adolescents with Klinefelter syndrome treated with at least 1 year of topical testosterone and aromatase inhibitor.

Authors:  Akanksha Mehta; Alexander Bolyakov; Jordan Roosma; Peter N Schlegel; Darius A Paduch
Journal:  Fertil Steril       Date:  2013-07-02       Impact factor: 7.329

7.  Parental desire and acceptability of spermatogonial stem cell cryopreservation in boys with cancer.

Authors:  H van den Berg; S Repping; F van der Veen
Journal:  Hum Reprod       Date:  2006-09-25       Impact factor: 6.918

Review 8.  Ejaculated spermatozoa in patients with non-mosaic Klinefelter's syndrome.

Authors:  M Kitamura; K Matsumiya; M Koga; K Nishimura; H Miura; T Tsuji; M Matsumoto; Y Okamoto; A Okuyama
Journal:  Int J Urol       Date:  2000-03       Impact factor: 3.369

9.  The feasibility of fertility preservation in adolescents with Klinefelter syndrome.

Authors:  N Rives; J P Milazzo; A Perdrix; M Castanet; G Joly-Hélas; L Sibert; A Bironneau; A Way; B Macé
Journal:  Hum Reprod       Date:  2013-03-28       Impact factor: 6.918

Review 10.  Klinefelter's syndrome.

Authors:  Fabio Lanfranco; Axel Kamischke; Michael Zitzmann; Eberhard Nieschlag
Journal:  Lancet       Date:  2004 Jul 17-23       Impact factor: 79.321

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  8 in total

1.  Klinefelter syndrome: fertility considerations and gaps in knowledge.

Authors:  Leena Nahata; Richard N Yu; Laurie E Cohen
Journal:  Transl Pediatr       Date:  2016-07

Review 2.  Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome.

Authors:  Shanlee Davis; Susan Howell; Rebecca Wilson; Tanea Tanda; Judy Ross; Philip Zeitler; Nicole Tartaglia
Journal:  Adv Pediatr       Date:  2016-08

Review 3.  Klinefelter syndrome: From pediatrics to geriatrics.

Authors:  Koji Shiraishi; Hideyasu Matsuyama
Journal:  Reprod Med Biol       Date:  2018-12-08

4.  The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature.

Authors:  Esmée Sinéad Hanna; Tim Cheetham; Kristine Fearon; Cathy Herbrand; Nicky Hudson; Kevin McEleny; Richard Quinton; Eleanor Stevenson; Scott Wilkes
Journal:  Front Endocrinol (Lausanne)       Date:  2019-11-26       Impact factor: 5.555

5.  In vitro propagation of XXY human Klinefelter spermatogonial stem cells: A step towards new fertility opportunities.

Authors:  Guillermo Galdon; Nicholas A Deebel; Nima Pourhabibi Zarandi; Darren Teramoto; YanHe Lue; Christina Wang; Ronald Swerdloff; Mark J Pettenati; William G Kearns; Stuart Howards; Stanley Kogan; Anthony Atala; Hooman Sadri-Ardekani
Journal:  Front Endocrinol (Lausanne)       Date:  2022-09-28       Impact factor: 6.055

Review 6.  Adolescent Klinefelter syndrome: is there an advantage to testis tissue harvesting or not?

Authors:  Robert Oates
Journal:  F1000Res       Date:  2016-07-06

7.  Disorders of sex development: timing of diagnosis and management in a single large tertiary center.

Authors:  E Kohva; P J Miettinen; S Taskinen; M Hero; A Tarkkanen; T Raivio
Journal:  Endocr Connect       Date:  2018-03-26       Impact factor: 3.335

8.  Setting Up a Cryopreservation Programme for Immature Testicular Tissue: Lessons Learned After More Than 15 Years of Experience.

Authors:  Aude Braye; Herman Tournaye; Ellen Goossens
Journal:  Clin Med Insights Reprod Health       Date:  2019-11-20
  8 in total

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