Fertility Preservation in Cases of Klinefelter Syndrome.

NCT01918280 | Completed DMC

• 1 other identifier: 2009.576
• Study Type: interventional
• Target: 141
• Locations: 1 country
• Sites: 4

Brief Summary

Klinefelter Syndrome (KS) is the most common sex chromosomal abnormalities (1/600 newborn males), and is characterized by a hypergonadism hypogonadism. Until few years ago, mostly non-mosaic KS was considered as a model of a complete male infertility although few KS (4-8%) have an oligospermia. Recent studies in adult with non-mosaic KS reported the possibility of sperm retrieval by testicular biopsy (TESE) in around 50% cases and more than some pregnancies have been obtained after TESE with Intracytoplasmic Sperm Injection (ICSI). Since 1997, more than one hundred births are described. As some studies shown a decrease of successful sperm retrieval with the increasing of age, we plan to compare the potential of sperm retrieval between two groups "adult" (23-55 years) and "young" after the onset of puberty (15-22 years). The study will be performed by searching spermatozoa on two seminal analyses spaced out 3 months followed by a testicular biopsy if the azoospermia is confirmed on semen analyses.

Conditions

Klinefelter Syndrome

Keywords

Klinefelter Syndrome; Azoospermia; Seminal analyses; Testicular biopsy

Outcome Measures

Primary Outcomes (1)

• TEsticular Sperm Extraction (TESE)

  Improvement of sperm retrieval rate by Testicular Sperm extraction (TESE) in the "Young" group compare to "Adult" group.

  15 months

Secondary Outcomes (3)

• Androgenotherapy

  15 months

• Prognosis factors

  15 months

• Histopathologist analyses

  15 months

Study Arms (2)

Young group

EXPERIMENTAL

Patient aged 15-22 years for seminal analyses and testicular biopsy

Procedure: Seminal analyses and testicular biopsy

Adult group

OTHER

Patient aged 23-55 years for seminal analyses and testicular biopsy

Procedure: Seminal analyses and testicular biopsy

Interventions

Seminal analyses and testicular biopsy PROCEDURE

Two seminal analyses spaced out 3 months followed by a testicular biopsy if the azoospermia is confirmed on semen analyses.

Adult group; Young group

Eligibility Criteria

• Age: 15 Years - 55 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Klinefelter Syndrome with 47,XXY non-mosaic
• Androgenotherapy stopped since more than 6 months

You may not qualify if:

• Antecedent of Radiotherapy or chemotherapy
• Psychological trouble
• Treatment interfering with spermatogenesis
• Androgenotherapy non stopped

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (4)

Service de Biologie de la Reproduction - CECOS - Groupe Hospitalier Pellegrin

Bordeaux, 33076, France

Location

Service d'Endocrinologie Moléculaire et Maladies Rares, Centre de Biologie Est, Hospices Civils de Lyon

Bron, 69677, France

Location

Service de Biologie de la Reproduction - Hôpital de la Conception

Marseille, 13385, France

Location

Groupe de Médecine de la Reproduction - CECOS Midi-Pyrénées - Hôpital Paule de Viguier)

Toulouse, 31059, France

Location

Related Publications (2)

• Plotton I, Giscard d'Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F, Lejeune H; FERTIPRESERVE group. Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome. J Clin Endocrinol Metab. 2015 Mar;100(3):961-7. doi: 10.1210/jc.2014-3083. Epub 2014 Nov 25.

  PMID: 25423570 RESULT

• Renault L, Labrune E, Giscard d'Estaing S, Cuzin B, Lapoirie M, Benchaib M, Lornage J, Soignon G, de Souza A, Dijoud F, Fraison E, Pral-Chatillon L, Bordes A, Sanlaville D, Schluth-Bolard C, Salle B, Ecochard R, Lejeune H, Plotton I. Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate, and AMH levels are higher when TESE is positive. Hum Reprod. 2022 Oct 31;37(11):2518-2531. doi: 10.1093/humrep/deac203.

  PMID: 36112034 RESULT

MeSH Terms

Conditions

Klinefelter Syndrome; Azoospermia

Condition Hierarchy (Ancestors)

Sex Chromosome Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Hypogonadism; Infertility, Male; Genital Diseases, Male; Genital Diseases; Infertility

Study Officials

• Ingrid PLOTTON, MD

  Hospices Civils de Lyon

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: PREVENTION
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 6, 2013
• First Posted: August 7, 2013
• Study Start: September 20, 2010
• Primary Completion: September 17, 2018
• Study Completion: September 17, 2018
• Last Updated: December 19, 2025

Record last verified: 2025-12

Locations

FR (4)