Results 151 to 160 of about 78,073 (260)

Impact of FSHB and FSHR Genes Polymorphisms on Hormonal Profile and Sperm Retrieval Outcome in Men With Klinefelter Syndrome: A Clinical–Genetic Predictive Study

Andrology, EarlyView.
ABSTRACT Background Genetic variability within the follicle‐stimulating hormone (FSH)‐related genes might contribute to phenotypic heterogeneity in patients with Klinefelter syndrome (KS), yet its clinical impact on sperm retrieval remains unclear. Objectives To investigate the association between FSHB c.211 G > T and FSHR polymorphisms (c.2039 A > G ...
Andrea Graziani, Giuseppe Grande, Maria Santa Rocca, Massimo Iafrate, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +6 more
wiley   +1 more source

Spectrum of constitutional chromosomal disorders: A five-year retrospective analysis from a tertiary care center in Karachi. [PDF]

Pak J Med Sci
Aman S, Mujtaba M, Naz M, Mansoor N.
europepmc   +1 more source

Karyotyping [PDF]

, 2020
openaire   +1 more source

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source

Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.

Sex Dev
Lima-Santos J, Nascimento-Vidoti CG, Correia-Costa GR, Campos NLV, Guaragna MS, de Oliveira FM, Barros BA, Miranda ML, Antolini Tavares A, Guerra-Junior G, Maciel-Guerra AT, Fabbri-Scallet H, Vieira TP.   +12 more
europepmc   +1 more source

Prenatal diagnosis and clinical evaluation of fetuses with structural X chromosome abnormalities: a ten-year single-center retrospective study. [PDF]

BMC Med Genomics
Zhang L, Zhuang J, Chen W, Chen X, Huang N.   +4 more
europepmc   +1 more source

Loss‐of‐Function Variants in CCDC189 Cause Human Oligoasthenoteratozoospermia by Disrupting Sperm Flagellar and Acrosomal Architecture

Andrology, EarlyView.
ABSTRACT Background Oligoasthenoteratozoospermia (OAT), characterized by reduced sperm count, impaired motility, and abnormal morphology, is a major cause of male infertility with substantial genetic heterogeneity. However, the underlying genetic etiology remains unresolved in a large proportion of affected individuals.
Jianteng Zhou, Ghulam Mustafa, Tingting Lin, Jingwei Ye, Huan Zhang, Hanwei Jiang, Kexin Yang, Guoning Huang, Qinghua Shi   +8 more
wiley   +1 more source

A qPCR-based algorithm for the diagnosis of classic and non-classic Turner syndrome. [PDF]

Indian J Med Res
Bose C, Mondal S, Saha C, Sengupta N, Bhattacharyya NP, Mukhopadhyay S.   +5 more
europepmc   +1 more source

Feminizing Therapy in People With Klinefelter Syndrome and Gender Incongruence: Considerations for Treatment Without Testosterone Blockers

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS; 47, XXY) usually involves male sex development and gender identity. Small studies suggest gender incongruence may be more common in KS, but feminizing gender‑affirming hormone therapy in this group has been scarcely reported.
Maaike Kroon, Tamira Klaziene Klooker, Sabine Elisabeth Hannema, Martin Den Heijer   +3 more
wiley   +1 more source

Correlation between reproductive hormone levels and genetic abnormalities in patients with non-obstructive azoospermia and oligospermia. [PDF]

Transl Androl Urol
Fu Y, Hu L, Liu J, Pei Y, Luo X, Bai J, Liu W.   +6 more
europepmc   +1 more source