Results 111 to 120 of about 167,087,863 (243)

Shaping Future Children, Sex Selection, and “Normal” Human Capacities

Bioethics, EarlyView.
ABSTRACT If we think that parents have an obligation to have a healthy child then we need to know what counts as healthy, when male and female children are born with very different capacities. If we give up on the idea that our obligations to use technologies of genetic selection are discharged once we try to secure the birth of a healthy child, as ...
Robert Sparrow
wiley   +1 more source

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome

Clinical Endocrinology, EarlyView.
ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle, Christine Lefevre, Simon Boussion, Cindy Colson, Iva Gueorguieva, Francois Marcelli, Anne Laure Barbotin, Pascal Pigny, Hamza Benderradji, Clara Leroy   +9 more
wiley   +1 more source

Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development

Frontiers in Pediatrics
ObjectiveA firm diagnosis revealing the etiology of disorders/differences of sex development (DSD) is most helpful in guiding clinical management. The aim of this study is to investigate molecular genetic diagnoses and surgical treatment in a cohort of ...
Yuenshan Sammi Wong, Yuenshan Sammi Wong, Ho Ming Luk, Ho Chung Yau, Lap Ming Wong, Sarah Wing Yiu Poon, Joanna Yuet Ling Tung, Yuk Him Tam, Yuk Him Tam   +8 more
doaj   +1 more source

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

Clin Case Rep
ABSTRACT Familial partial androgen insensitivity syndrome is a rare cause of 46, XY disorder of sex development. It includes marked phenotypic variability, even among siblings. Persistent undervirilization despite normal androgen levels should prompt early multidisciplinary evaluation and counseling, especially where genetic testing is limited.
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   +2 more sources

Systematic Comparison of High‐Fat Diet– and Streptozotocin‐Induced Prediabetic Obese C57BL/6J Mouse Models: A Sex‐Based Protocol Optimization Study

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Animal models of prediabetes (Pre‐DM) are essential for studying metabolic disease and testing therapies, yet high‐fat diet (HFD) and HFD‐plus‐streptozotocin (STZ) protocols vary in feeding duration, STZ dose, and diagnostic criteria and rarely account for sex.
Min Xu, Chao Ke, Yangkun Liu, Wenying Shi, Yang Cao, Zhengyu Li, Yi Xiao, Wei Zhang   +7 more
wiley   +1 more source

A novel CUL4B gene variant activating Wnt4/β-catenin signal pathway to karyotype 46, XY female with disorders of sex development

Biological Research
Background Karyotype 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions due to irregular gonadal development or androgen synthesis or function issues.
Chunlin Wang, Hong Chen, Qingqing Chen, Yangbin Qu, Ke Yuan, Li Liang, Qingfeng Yan   +6 more
doaj   +1 more source

Persistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog

Anais da Academia Brasileira de Ciências
: Here we describe an eight-year-old miniature schnauzer (MS) dog from Brazil with Persistent Mullerian Duct Syndrome (PMDS) and the single base pair substitution in AMHR2 exon 3, first detected in this breed in the USA.
DENISE M. NOGUEIRA, JORGE L.A. ARMADA, DIEGO M. PENEDO, VANIA G.S. TANNOUZ, VICKI N. MEYERS-WALLEN   +4 more
doaj   +1 more source

TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics

The FEBS Journal, EarlyView.
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga, Zsolt Ráduly, Beáta Boros‐Oláh, Éva Nagy, Zsolt Karányi, László Halász, Bálint László Bálint, György Vámosi, Emese Tóth, Péter Bai, Serena Santangelo, Patrizia Bossolasco, Antonia Ratti, Vincent Géli, Yves Pommier, Lóránt Székvölgyi   +15 more
wiley   +1 more source

Research progress in the role of DHX37 gene in disorders of sex development

Shanghai Jiaotong Daxue xuebao. Yixue ban
Disorders of sex development (DSD) are a group of conditions with strong clinical phenotype heterogeneity, and the incidence of DSD in the population is 1/5 000 to 1/4 500.
LIU Bei, HE Jing
doaj   +1 more source

Analysis of the Wilms' Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development

, 2011
Context: The Wilms' tumor suppressor gene (WT1) is one of the major regulators of early gonadal and kidney development. WT1 mutations have been identified in 46,XY disorders of sex development (DSD) with associated kidney disease and in
Wieacker, Peter, Köhler, Birgit, M. Pohl, Maier, Rolf, B. Köhler, J. Gellermann, Friedsam, V., P. Wieacker, Gellermann, Jutta, O. Hiort, H. Krude, Hiort, Olaf, V. Friedsam, Grüters-Kieslich, Annette, Krude, Heiko, R. F. Maier, H. Biebermann, Biebermann, Heike, Pohl, Martin, A. Grüters   +19 more
core   +1 more source