Case - Severely oligozoospermic patient with both mosaic Klinefelter syndrome and a complete AZFc Y chromosome microdeletion.

Case - Severely oligozoospermic patient with both mosaic Klinefelter syndrome and a complete AZFc Y chromosome microdeletion. Can Urol Assoc J. 2019 Nov 29;: Authors: Golin A, Flannigan R, Neil S PMID: 31793865 [PubMed - as supplied by publisher]
Source: Canadian Urological Association Journal - Category: Urology & Nephrology Authors: Tags: Can Urol Assoc J Source Type: research

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Abstract The aim of this study was to establish the prevalence of chromosomal abnormalities and microdeletions on the Y chromosome in Tunisian infertile men with severe oligozoospermia or non-obstructive azoospermia. In cases of azoospermia, we aimed also to correlate histological results after negative testicular sperm extraction with the type of Y chromosome microdeletion. 84 infertile patients and 52 controls were screened for karyotypic abnormalities using G-banding and Yq chromosome microdeletions using multiplex PCR. 7 infertile males (8.3%) carried chromosomal abnormalities and 8 (9.5%) presented Y chromoso...
Source: Annales de Biologie Clinique - Category: Biochemistry Authors: Tags: Ann Biol Clin (Paris) Source Type: research
ConclusionThe percentage of microdeletions in KS patients was lower than in NOA patients, suggesting that AZF microdeletions and KS do not have a causal relationship and that Y chromosome microdeletions are not a genetic factor linked to KS.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research
Abstract IntroductionTesticular microdissection sperm extraction (MD‐TESE) combined with intracytoplasmic sperm injection (ICSI) has made biological fatherhood possible for many men with the most severe form of male infertility, non‐obstructive azoospermia. MD‐TESE was introduced in Turku in 2008, and by 2015, 100 Finnish men with non‐obstructive azoospermia have been operated on. Material and methodsThe average age of the men was 33 years at the time of surgery. Forty‐eight had a needle biopsy previously and 56% had a testicular size
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: Original Research Article Source Type: research
ConclusionsOur SRR is comparable with international results, and cumulative live birth rate similar to other ICSI indications in Finland. Physicians and specialists need to be made aware of new treatment options to enable biological fatherhood for men with non‐obstructive azoospermia.This article is protected by copyright. All rights reserved.
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: Original Research Article Source Type: research
Abstract Social cognitive impairments may largely contribute to reduced social skills and adaptive problems in individuals with microdeletion syndromes associated with behavioral and psychiatric phenotypes. Understanding the role of social information processing deficits in the emergence of psychotic disorders is a crucial challenge in the management of these patients. Each neurogenetic disorder is characterized by a specific social cognition phenotype. Clarifying the social ability profile of each population may help adjust patient care according to their key strengths and weaknesses. The main objective of this a...
Source: Archives de Pediatrie - Category: Pediatrics Authors: Tags: Arch Pediatr Source Type: research
Conclusion Clinical presentations or phenotypes can be used as predictive factors for successful sperm retrieval during mTESE in patients with NOA. Hypogonadotropic hypogonadism and cases with UDT history have a higher chance of sperm retrieval. Initial testicular needle biopsy, if available, can provide valuable information about chances of sperm retrieval. Hypospermatogenesis predicts high sperm yield rate, and LMA can have best upgrade results of sperm yield after mTESE.
Source: Urological Science - Category: Urology & Nephrology Source Type: research
CONCLUSIONS: The sperm retrieval rate and clinical pregnancy rate per initiated cycle in men undergoing in-vitro fertilisation and testicular sperm extraction in our unit were 44.9% and 13.5%, respectively. No sperms could be retrieved in the presence of AZFa and AZFb microdeletions, but karyotype and AZFc microdeletion abnormalities otherwise did not predict the success of sperm retrieval in couples undergoing in-vitro fertilisation and testicular sperm extraction. Genetic tests are important prior to testicular sperm extraction for patient selection and genetic counselling. PMID: 27687508 [PubMed - as supplied by publisher]
Source: Hong Kong Medical Journal - Category: Journals (General) Tags: Hong Kong Med J Source Type: research
CONCLUSION: According to our results, the Johnson score, TT level, family history-related infertility, and Y chromosome microdeletions were determined to be independent predictive factors for sperm found. . PMID: 26706742 [PubMed - in process]
Source: Urology Journal - Category: Urology & Nephrology Authors: Tags: Urol J Source Type: research
The importance of a precise molecular diagnosis for children with intellectual disability, autism spectrum disorder and epilepsy has become widely accepted and genetic testing is an integral part of the diagnostic evaluation of these children. In contrast, children with an isolated speech or language disorder are not often genetically evaluated, despite recent evidence supporting a role for genetic factors in the aetiology of these disorders. Several chromosomal copy number variants and single gene disorders associated with abnormalities of speech and language have been identified. Individuals without a precise genetic dia...
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Editor's choice, Epilepsy and seizures, Obesity (nutrition), Reproductive medicine Cognitive and behavioural genetics Source Type: research
Authors: Stagi S, Iurato C, Lapi E, Cavalli L, Brandi ML, de Martino M Abstract More and more data seem to indicate the presence of an increasing number of syndromes and genetic diseases characterized by impaired bone mass and quality. Meanwhile, the improvement of etiopathogenetic knowledge and the employment of more adequate treatments have generated a significant increase in survival related to these syndromes and diseases. It is thus important to identify and treat bone impairment in these patients in order to assure a better quality of life. This review provides an updated overview of bone pathophysiology and ...
Source: Hormones - Category: Endocrinology Tags: Hormones (Athens) Source Type: research
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