Fertility Archives - The Association for X and Y Chromosome Variations

Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX

Article title: Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX

Author: Alan D. Rogol

Date of Publication: August 1, 2023

“Assisted reproductive technology, especially micro-testicular sperm extraction, has an important role, especially for those with 47,XXY; however, more recent data show promising techniques for the in vitro maturation of spermatogonial stem cells and 3D organoids in culture. Assisted reproductive technology is more complex for the female, but vitrification of oocytes has shown promising advances.”

Rick Frith2023-11-21T16:09:37-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, Mosaicism|Tags: Assisted Reproductive Technology, Fertility, In Vitro|

Supernumerary sex chromosome abnormalities – new developments and future trajectories

Article Title: Supernumerary sex chromosome abnormalities – new developments and future trajectories – A summary of the 2022 3rd International Workshop on Klinefelter syndrome, XYY and Trisomy X

Authors: Gravholt, Ferlin, Gromoll, Juul, Raznahan, Van Rijn, Rogol, Skakkebæk, Tartaglia, and Swaab

Date of Publication: January 4, 2023

“The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12-14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We focus on shortcomings in knowledge and therefore point out future areas for research.”

Rick Frith2023-01-12T14:22:13-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: Fertility, Hypogonadism, Neuropsychology, Osteoporosis, Testosterone treatment|

Delaying testicular sperm extraction in 47,XXY Klinefelter patients

Article Title: 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

Authors: Renault, Labrune, D’Estaing, Cuzin, Lapoirie, Benchaib, Lornage, Soignon, De Souza, Dijoud, Fraison, Pral-Chatillon, Bordes, Sanlaville, Schluth-Bolard, Salle, Ecochard, Lejeune, and Plotton

Date of Publication: September 16, 2022

“Should testicular sperm extraction (TESE) in non-mosaic 47,XXY Klinefelter syndrome (KS) patients be performed soon after puberty or could it be delayed until adulthood?”

Rick Frith2022-11-16T14:45:18-05:00Categories: 47,XXY (Klinefelter)|Tags: Fertility, TESE|

Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Article Title: Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Authors: Tang, Lin, Guo, Hou, and Yu

Date of Publication: April 22, 2019

“FISH should be recommended to evaluate low proportion mosaicism in similar cases. Due to the risk of ovarian failure, fertility preservation for patients with 45,X/47,XXX mosaicism at a younger age must be considered.”

Rick Frith2022-10-19T13:16:14-04:00Categories: 47,XXX (trisomy x), Mosaicism|Tags: 45X, Fertility, Turner syndrome|

Recent advancement in the treatment of boys and adolescents with hypogonadism

Article Title: Recent advancement in the treatment of boys and adolescents with hypogonadism

Authors: Rey

Date of Publication: November 2021

“Testosterone therapy has been the standard, although off-label, in the vast majority of cases. However, more recently alternative therapies have been tested: aromatase inhibitors to induce the hypothalamic-pituitary-testicular axis in boys with constitutional delay of puberty and replacement with GnRH or gonadotrophins in those with central hypogonadism. Furthermore, follicle-stimulating hormone (FSH) priming prior to hCG or luteinizing hormone (LH) treatment seems effective to induce an enhanced testicular enlargement. Although the rationale for gonadotrophin or GnRH treatment is based on mimicking normal physiology, long-term results are still needed to assess their impact on adult fertility.”

Rick Frith2022-01-25T15:43:11-05:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Model for Fertility Preservation in Klinefelter Syndrome Patients

Article Title: In Vitro Propagation of XXY Undifferentiated Mouse Spermatogonia: Model for Fertility Preservation in Klinefelter Syndrome Patients

Authors: Galdon, Deebel, Zarandi, Pettenati, Kogan, Wang, Swerdloff, Atala, Lue, and Sadri-Ardekani

Date of Publication: December 24, 2021

“These data provide the first evidence that an extra sex chromosome was lost during innate SSC culture, a crucial finding in treating KS patients for preserving and propagating SSCs for future sperm production, either in vitro or in vivo. This in vitro propagation system can be translated to clinical fertility preservation for KS patients.”

Rick Frith2022-01-13T14:55:57-05:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

A clinical algorithm for management of fertility in adolescents with Klinefelter syndrome

Article title: A clinical algorithm for management of fertility in adolescents with the Klinefelter syndrome

Author: Masterson III, Nassaub, and Ramasamya

Date of Publication: May 2020

“In this review, we will discuss contemporary management of adolescents with Klinefelter’s syndrome, with a specific focus on fertility preservation and management of hypogonadism. As urologists often see these children after evaluation by an endocrinologist, we simplify our treatment strategy by creating case scenarios and present a treatment algorithm.”

Rick Frith2021-06-08T12:54:03-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Male infertility due to testicular disorders

Article title: Male infertility due to testicular disorders

Author: Sharma, Minhas, Dhillo, and Jayasena

Date of Publication: December 9, 2020

“Male infertility due to testicular failure has traditionally been viewed as unmodifiable. In the absence of effective pharmacological therapies, delivery of lifestyle advice is a potentially important treatment option. Future research efforts are needed to determine unidentified factors causative in ‘idiopathic’ male infertility and long-term follow-up studies of babies conceived through ART [assisted reproductive techniques].”

Rick Frith2021-05-18T14:38:36-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Infertility considerations in Klinefelter syndrome: From origin to management

Article Title: Infertility considerations in Klinefelter syndrome: From origin to management

Authors: Deebel, Bradshaw, and Sadri-Ardekani

Date of Publication: December 15, 2020

“Klinefelter syndrome (KS) is defined as the presence of one or more extra “X” chromosome in a male patient. It affects approximately 1 in 600 newborn males and the most common chromosomal abnormality, leading to male hypogonadism and infertility. There is a lack of data supporting best practices for KS patients’ care. In this paper we review controversial issues in KS research ranging from mechanisms of variation in KS phenotype to abnormalities resulting in reduced sperm production to successful sperm retrieval disparities after testicular sperm extraction (TESE). Translation to live birth and offspring health is also examined. Finally, medical therapies used to optimize the hormonal status and chances of fertility in KS patients are reviewed. We will also discuss the experimental spermatogonial stem cell (SSC) treatments, which are considered the future for TESE negative patients.”

Rick Frith2020-12-30T16:38:11-05:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|