SC295 - Sperm retrieval rates in non-mosaic klinefelter patients undergoing microsurgical testicular sperm extraction: What expectations do we have in the real-life setting?

Publication date: October 2019Source: European Urology Supplements, Volume 18, Issue 9Author(s): L. Boeri, M. Preto, M. Sibona, F. Palmisano, P. Capogrosso, E. Ventimiglia, V. Lorusso, M. Serrago, M. Falcone, M. Timpano, C. Ceruti, F. Gadda, A. Salonia, L. Rolle, P. Gontero, E. Montanari
Source: European Urology Supplements - Category: Urology & Nephrology Source Type: research

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We report a rare case of a newborn male affected by incontinentia pigmenti, Klinefelter syndrome, and aplasia cutis congenita, who developed severe cutaneous, neurological, and ophthalmological manifestations. Genetic analysis showed the presence of the common mutation of NEMO (exon 4 –10 deletion), Klinefelter syndrome karyotype (47 XXY), and random X inactivation. This is in accordance with the severity of involvement of the affected tissues (skin, central nervous system, and retina). Indeed, the patient developed typical skin lesions all over the body, except the head. Equal ly, multiple lesions diffusely involvin...
Source: Dermatology and Therapy - Category: Dermatology Source Type: research
Abstract The aim of this study was to evaluate the predictive value of factors in infertile male patients to retrieve sperm from their testicles before they undergo testicular sperm extraction (TESE). In total, 64 males were enrolled in this study. Infertility was identified as obstructive azoospermia (OA); non-obstructive azoospermia (NOA); Klinefelter syndrome (KS); and cryptozoospermia (Crypt). Age, body mass index and concomitant conditions were noted. Testicular volumes, serum levels of Follicle-Stimulating Hormone (FSH), Luteinizing Hormone (LH), testosterone (T) and prolactin were investigated. Sperm retrie...
Source: Systems Biology in Reproductive Medicine - Category: Reproduction Medicine Authors: Tags: Syst Biol Reprod Med Source Type: research
Male hypogonadism, or testosterone deficiency, results either from a disorder of the testes (primary hypogonadism) or of the hypothalamus or pituitary glands (secondary hypogonadism). Causes of primary hypogonadism include Klinefelter's syndrome, undescended testicles, and hemochromatosis. Secondary hypogonadism can be due to aging, increasing body mass index, and/or type 2 diabetes mellitus.
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Resource Center Source Type: news
Conclusion: This case report is the first to report differences in the origins of supernumerary X chromosomes in brothers with KS and furthers the current understanding of the cytogenetic mechanisms in KS.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Source: Application of Clinical Genetics - Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
CONCLUSION: Fertility preservation practices in adolescents with Klinefelter Syndrome vary greatly within and between the specialties caring for these patients. These findings should guide future research and highlight the importance of establishing clinical practice guidelines. PMID: 31608942 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research
Authors: Fainberg J, Hayden RP, Schlegel PN Abstract Introduction: Klinefelter syndrome (KS) represents the most common chromosomal abnormality in the general population, and one of the most common genetic etiologies of nonobstructive azoospermia (NOA) and in severe oligospermia. Once considered untreatable, men with KS and NOA now have a variety of treatment options to obtain paternity. Areas covered: The cornerstone of treatment for both KS and NOA patients remains the surgical retrieval of viable sperm, which can be used for intracytoplasmic sperm injection to obtain pregnancy. Although the field has advanced si...
Source: Expert Review of Endocrinology and Metabolism - Category: Endocrinology Tags: Expert Rev Endocrinol Metab Source Type: research
Authors: Carleton O, Smith FM, Towns C PMID: 31563931 [PubMed - in process]
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
Nonobstructive azoospermia (NOA) remains the most severe form of intrinsic testicular failure. While some genetic etiologies have been reported (Y chromosome microdeletions, Klinefelter's syndrome, XXY males, whole chromosome translocations), most genetic causes of testicular failure remain poorly defined. Even when we can identify the genetic basis for NOA, we still lack effective targeted therapy. As a result, the correction of genetic infertility currently remains a treatment of scientific imagination.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Fertile battle Source Type: research
We describe a 65-year-old man who presented with arthralgia, reduced body hair and gynecomastia. He showed severe pancytopaenia. Laboratory examination revealed high follicle-stimulating hormone, low testosterone and oestradiol, elevated antinuclear antibodies, anti-dsDNA and ESR levels, as well as low complement levels. An electrocardiogram showed atrial fibrillation. Computed tomography and dual-energy x-ray absorptiometry showed pleural effusion and osteoporosis. Chromosome analysis revealed 47, XXY karyotype. The unifying diagnosis was therefore Klinefelter's syndrome (KS) with systemic lupus erythematosus (SLE), with ...
Source: Lupus - Category: Rheumatology Authors: Tags: Lupus Source Type: research
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