Results 171 to 180 of about 108,883 (296)

A Likely Diagnosis of Familial Partial Androgen Insensitivity Syndrome in Three 46, XY Siblings With Ambiguous Genitalia: A Case Series. [PDF]

Clin Case Rep
Ali T, Javaid MH, Memon SF, Memon ZF, Iqbal M, Afridi S, Soroush AR, Khan AI, Ahmad N, Afridi NA, Ali Z.   +10 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

DeepKaryo-Check: a two-stage automated screening framework for chromosomal numerical and structural abnormalities in clinical karyotype analysis. [PDF]

Front Cell Dev Biol
Li W, Liang X, Yu H, Sun L.
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

Karyotypic diversity in the Gobiidae: A comparative analysis of two Atlantic species. [PDF]

Comp Cytogenet
de Lima-Filho PA, da Costa GWWF, da Silva SAS, Molina WF.   +3 more
europepmc   +1 more source

Machine Learning‐Based Prediction of Sperm Retrieval Outcomes in Patients With Klinefelter Syndrome: A Multicenter Study With External Validation

Andrology, EarlyView.
ABSTRACT Background The Klinefelter syndrome is a common genetic cause of male infertility, and testicular sperm extraction (TESE) enables sperm retrieval in a subset of affected patients. However, predicting TESE success remains challenging due to the heterogeneous clinical and endocrinological presentation of the Klinefelter syndrome.
Murat Gül, Ali Şahin, Cevahir Özer, Mesut Altan, Tansu Güdelci, Kadir Can Sahin, Mehmet Hamza Gültekin, Muhammed Arif İbis, Mesut Berkan Duran, Burak Sivaslıoğlu, Eray Hasırcı, Mert Kılıç, Ali Can Albaz, Gökhan Çeker, Gianmaria Salvio   +14 more
wiley   +1 more source

Determinants of survival after failure of frontline venetoclax plus hypomethylating agent therapy in 356 patients with newly diagnosed acute myeloid leukemia. [PDF]

Blood Cancer J
Fatima M, Kumar S, Warraich M, McCullough K, Al-Kali A, Alkhateeb HB, Begna KH, Mangaonkar A, Saliba AN, Litzow MR, Hogan W, Shah MV, Patnaik MM, Pardanani A, Badar T, Foran J, Palmer J, Yi CA, Tefferi A, Gangat N.   +19 more
europepmc   +1 more source

Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines

Andrology, EarlyView.
ABSTRACT Background Histological evaluation of testicular tissue is central to the assessment of infertile men, particularly those at an increased risk of testicular germ cell tumors (TGCT). Traditionally, testicular biopsies have been used primarily for diagnostic purposes, such as the detection of germ cell neoplasia in situ (GCNIS). With advances in
Lise Aksglaede, George Kanakis, Ewa Rajpert‐De Meyts, Davor Jezek, Ferran Algaba, Gert Dohle, Jolanta Slowikowska‐Hilczer, Sabine Kliesch, Hermann M. Behre, Csilla Krausz, Dimitrios G. Goulis, Niels Jørgensen   +11 more
wiley   +1 more source

Complementary Diagnostic Roles of Non-Invasive Prenatal Testing, Chromosomal Microarray Analysis, and Karyotyping in 14,011 High-Risk Pregnancies: A Retrospective Cohort Study with Combined Analyses. [PDF]

J Clin Med
Lee S, Kim SW, Lee E, Lee S, Han S.
europepmc   +1 more source

Sex Steroids Measurement by Mass Spectrometry in Hypogonadal Men in a Real‐World Setting: Serum Estradiol (E2) and E2 to Total Testosterone Ratio Do Not Differ Between Patients With Klinefelter Syndrome and Non‐Klinefelter Syndrome Hypogonadism

Andrology, EarlyView.
ABSTRACT Background Traditionally, Klinefelter syndrome (KS) was considered a clinical condition associated with hyperestrogenism. Aim To compare circulating sex steroids, particularly estrogens, in a cohort of KS and non‐KS hypogonadal men. Materials and Methods A cohort of hypogonadal men, treated and untreated, was prospectively enrolled in a real ...
Daniele Renda Livraghi, Francesco Costantino, Filippo Vignali, Giulia Canu, Maria Cristina De Santis, Laura Roli, Tommaso Fasano, Vincenzo Rochira, Sara De Vincentis   +8 more
wiley   +1 more source