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

Purpose of review The review presents a clinical algorithm for the evaluation and treatment for adolescents with Klinefelter's syndrome who desire fertility preservation. Recent findings Sperm is present in the ejaculate in around 8% of men with Klinefelter's syndrome. Although most are severely oligospermic/azoospermic, 43–45% of men will have sperm found during a testicular sperm extraction, reaching up to 70% in adolescents. Summary Klinefelter's syndrome (47, XXY) causes hypogonadotophic hypogonadism and severe oligospermia/azoospermia rendering natural conception rare. During puberty, boys often require testosterone replacement therapy to develop secondary sexual characteristics, which can further decrease spermatogenesis. There is a progressive decrease of testicular germ cells after the onset of puberty, suggesting that fertility evaluation and preservation should begin shortly thereafter. In adolescents desiring fertility evaluation, any testosterone therapy should be discontinued, hormones and gonadotrophins measured, and a semen analysis obtained. Adolescents with low testosterone are administered aromatase inhibitors, selective estrogen receptors modulators and/or human chorionic gonadotropin to increase endogenous testosterone production. After testosterone levels are normalized, semen analysis is performed, and cryopreservation encouraged if sperm is present. For those without sperm in the ejaculate, a testicular sperm extraction is offered.
Source: Current Opinion in Urology - Category: Urology & Nephrology Tags: GENDER MEDICINE, INFERTILITY AND ERECTILE FUNCTION: Edited by Ryan Flannigan and Ranjith Ramasamy Source Type: research

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Source: Brain Injury - Category: Neurology Tags: Brain Inj Source Type: research
Condition:   Infertility, Female Intervention:   Behavioral: Mindfulness based psychological intervention Sponsor:   University Hospital, Geneva Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Nonobstructive azoospermia (NOA) is a severe form of male infertility. The molecular basis of NOA is still poorly understood. The aim of this study was to explore the associations between single nucleotide polymorphisms (SNPs) of the TATA-box binding protein associated factor 4b (TAF4B) gene and NOA. A total of 100 Han Chinese patients with NOA and 100 healthy men as controls were recruited. Targeted gene capture sequencing was performed. A total of 11 TAF4B SNPs were screened in the NOA and control subjects. Six synonymous and 4 nonsynonymous variants were detected. The c.11G>T (p.G4V) mutation was detected only in NOA...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
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Source: World Journal of Urology - Category: Urology & Nephrology Source Type: research
ConclusionsInfertile women with UI undergoing assisted reproduction demonstrate different demographic and clinical characteristics compared to those of other causes of infertility, albeit live birth rates are similar.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
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Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - Category: Genetics & Stem Cells Authors: Tags: Sex Dev Source Type: research
In conclusion, the frequency of DSD in this study was 14%, consisting mainly of sex chromosome abnormalities but also 46,XX and 46,XY DSD. However, this figure may increase as further investigations are conducted in idiopathic cases with signs of primary testicular failure, which may present partial gonadal dysgenesis.Sex Dev
Source: Sexual Development - Category: Biology Source Type: research
Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. Azoospermia and infertility are almost inevitably present, but may be overcome by TESE and ICSI. Nevertheless, a broad spectrum of phenotypes has been described and>70% of the actually existing KS men may remain undiagnosed throughout their lifespan. Accordingly, hypogonadism is usually not evident until early adulthood and progresses with ageing.
Source: Metabolism - Clinical and Experimental - Category: Biomedical Science Authors: Source Type: research
CONCLUSIONS: KS patient-derived iPS cells that could differentiate into cardiomyocyte-like cells were established. PMID: 26709348 [PubMed - as supplied by publisher]
Source: Reproductive Biology - Category: Reproduction Medicine Authors: Tags: Reprod Med Biol Source Type: research
Conclusions KS patient-derived iPS cells that could differentiate into cardiomyocyte-like cells were established.
Source: Reproductive Medicine and Biology - Category: OBGYN Source Type: research
More News: Azoospermia | Boys | Hormones | Infertility | Klinefelter's Syndrome | Low Testosterone | Reproduction Medicine | Urology & Nephrology