Results 141 to 150 of about 29,641 (255)

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

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study. [PDF]

J Transl Med
Yin K, Lü Y, Zhang H, Li M, Chang J, Yang X, Qi Q, Zhou X, Guo J, Wang Y, Wang C, Li W, Hao N, Jiang Y.   +13 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

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

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

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

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Miscarriage Tissue Research: Still in Its Infancy. [PDF]

Life (Basel)
Lagerwerf RE, Kox L, Rousian M, De Bakker BS, Dawood Y.   +4 more
europepmc   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory. [PDF]

Hum Genet
Zhu Y, Chau MHK, Wang H, Song N, Wei R, Suen KW, Chan ACS, Hung WC, Cao Y, Dong Z, Leung TY, Cheung SW, Choy KW.   +12 more
europepmc   +1 more source