Clinical aspects of 49 infertile males with 45,X/46,XY mosaicism karyotype: A case series

Summary Disorders of sex development (DSD) are congenital abnormalities as an atypical development process in either gonadal or chromosomal structure. It is the cause of the abnormality in phenotype and characteristics. Chromosomal analysis plays an important role in the DSD determination. 45,X/46,XY mosaicism is a rare karyotype, and its prevalence is about 1.5 in 10,000 newborns. It affects the growth, hormonal balance, gonad development and histology. All data such as height, male general appearance, testis size and volume, external genitalia, spermogram and hormonal levels, testis pathology, Y chromosome microdeletion and karyotype, and assisted reproductive technology (ART) outcome were recorded based on patients profile and history. We investigated 64 infertile males with 45,X/46,XY mosaicism. Fifteen cases who had structural abnormalities in Y chromosome were excluded. From 49 available spermogram, 21 cases reported as azoospermic men, while 28 of them classified as nonazoospermic patients in which four of them displayed normal spermogram. According to hormonal evaluation, there were no significant differences between azoospermic and nonazoospermic groups. In azoospermia, only three couples underwent an ART cycle in which all of them failed. From 14 nonazoospermic cases who entered into the ART cycle, three cases experienced a successful pregnancy that one of the prosperous outcomes was twins. In 45,X/46,XY cases, both 45,X and 46,XY cell lines are seen. Various distri...
Source: Andrologia - Category: Urology & Nephrology Authors: Tags: CASE REPORT Source Type: research

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Publication date: Available online 6 December 2019Source: Trends in Endocrinology &MetabolismAuthor(s): Jingjing Qian, Qi Chen, Sean M. Ward, Enkui Duan, Ying ZhangEpidemiological studies have revealed that caffeine consumption during pregnancy is associated with adverse gestational outcomes, yet the underlying mechanisms remain obscure. Recent animal studies with physiologically relevant dosages have begun to dissect adverse effects of caffeine during pregnancy with respect to oviduct contractility, embryo development, uterine receptivity, and placentation that jointly contribute to pregnancy complications. Interestin...
Source: Trends in Endocrinology and Metabolism - Category: Endocrinology Source Type: research
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Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
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Source: The British Journal of Psychiatry for Mental Science - Category: Psychiatry Tags: Br J Psychiatry Source Type: research
Conclusion: Men with AZF microdeletions can achieve the delivery of healthy children using ICSI. In this series, it produced good implantation rate and obstetric and perinatal outcomes.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Trial/Experimental Study Source Type: research
Rationale: Small supernumerary marker chromosomes (sSMCs) can be usually discovered in the patients with mental retardation, infertile couples, and prenatal fetus. We aim to characterize the sSMC and explore the correlation between with sSMC and male infertility. Patient concerns: A 26-year-old Chinese male was referred for infertility consultation in our center after 1 year of regular unprotected coitus and no pregnancy. Diagnosis: Cytogenetic G-banding analysis initially described a mosaic karyotype 47,X,Yqh-,+mar[28]/46,X,Yqh-[22] for the proband, while his father showed a normal karyotype. The chromosome microa...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Rationale: Y;autosome translocations are associated with male infertility and azoospermia. Some carriers with a Y:22 translocation can produce offspring and transmit the translocation through generations without phenotypic repercussion. Hence, the clinical features of carriers with certain Y chromosome abnormalities remain uncertain. Patient concerns: An apparently healthy 33-year-old man, 175 cm tall and weighing 60 kg had a 6-month history of primary infertility. Diagnoses: The patient was diagnosed with oligoasthenozoospermia. A series of examinations have been performed to evaluate possible genetic causes o...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report 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
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Source: Hong Kong Medical Journal - Category: Journals (General) Tags: Hong Kong Med J Source Type: research
Summary We investigated whether the presence of Y chromosome azoospermia factor (AZF) microdeletions impacts upon the outcomes of intracytoplasmic sperm injection (ICSI) using fresh ejaculated spermatozoa. Sixteen oligozoospermia patients with Y chromosome AZFb or AZFc microdeletions and undergoing ICSI cycles between March 2013 and November 2014 were studied. Twenty‐six infertile men with normal Y chromosomes and also undergoing IVF/ICSI in the same time period were used as controls. A retrospective case–control study approach was used. Among the 16 cases, 12 (75%, 12/16) had deletions of AZFc markers (sY152, sY25...
Source: Andrologia - Category: Urology & Nephrology Authors: Tags: Original Article Source Type: research
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