Results 51 to 60 of about 5,328,161 (151)

Fetal Presentation of MYRF‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis

Prenatal Diagnosis, Volume 44, Issue 13, Page 1647-1658, December 2024.
ABSTRACT Purpose MYRF‐related cardiac‐urogenital syndrome (MYRF‐CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF‐CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far.
Maud Favier, Elise Brischoux‐Boucher, Louise C. Pyle, Nicolas Mottet, Marion Auber‐Lenoir, Julie Cattin, Eric Dahlen, Christelle Cabrol, Francine Arbez‐Gindre, Tania Attié‐Bitach, Odile Boute, Louise Devisme, Detlef Trost, Aicha Boughalem, David Chitayat, Lev Prasov, Odelia Chorin, Annick Rein‐Rothschild, Eran Kassif, Tal Weissbach, Laura Godfrey Hendon, Margaret P. Adam, Chloé Quelin, Sylvie Jaillard, Laura Mary, Sietse M. Aukema, Malou Heijligers, Christine de Die‐Smulders, Sander Stegmann, Lauren Badalato, Adi Ben‐Yehuda, Claire Beneteau, Pierre‐Louis Forey, Paul Kuentz, Juliette Piard   +34 more
wiley   +1 more source

A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1 [PDF]

European Journal of Endocrinology, 2015
ObjectiveThe LH/chorionic gonadotrophin receptor (LHCGR) is a G protein-coupled receptor (GPCR) that plays a central role in male sexual differentiation, regulation of ovarian follicular maturation, ovulation and maintenance of corpus luteum and pregnancy, as well as maintenance of testicular testosterone production.
Rivero-Muller, Adolfo, Potorac, Iulia, Pintiaux, Axelle, Daly, Adrian, THIRY, Albert, Rydlewski, Catherine, Nisolle, Michelle, Parent, Anne-Simone, Huhtaniemi, Ilpo, Beckers, Albert   +9 more
openaire   +5 more sources

Current landscape of fertility induction in males with congenital hypogonadotropic hypogonadism

Annals of the New York Academy of Sciences, Volume 1540, Issue 1, Page 133-146, October 2024.
Congenital hypogonadotropic hypogonadism (CHH) is a treatable form of male infertility amenable to hormonal treatment. Approximately 75%–80% of males with CHH can develop sperm in the ejaculate, and low sperm counts do not preclude fertility. Important early life determinants (i.e., minipuberty) affect future fertility potential. Identifying predictors
Andrew A. Dwyer, Isabella R. McDonald, Richard Quinton   +2 more
wiley   +1 more source

Restoring function to inactivating G protein‐coupled receptor variants in the hypothalamic–pituitary–gonadal axis1

Journal of Neuroendocrinology, Volume 36, Issue 9, September 2024.
Pharmacological chaperones (PC's) are an emerging class of cell permeant small molecules that can stabilise the folding of misfolded variant proteins, thus restoring function. G protein‐coupled receptors (GPCRs) are a family of plasma membrane associated receptors that have been shown to be amenable to PC rescue.
Tarryn Radomsky, Ross C. Anderson, Robert P. Millar, Claire L. Newton   +3 more
wiley   +1 more source

CHARGE syndrome with both primary and secondary hypogonadism

IJU Case Reports, Volume 7, Issue 3, Page 197-200, May 2024.
Introduction CHARGE syndrome is a rare disorder that causes congenital abnormalities in multiple organs, including secondary hypogonadism. We report, herein, a unique case of CHARGE syndrome with both primary and secondary hypogonadism and discuss the possible causes and pathogenesis in this patient.
Yuki Yoshida, Soichiro Ogawa, Satoru Meguro, Akifumi Onagi, Ryo Tanji, Kanako Matsuoka, Seiji Hoshi, Junya Hata, Yuichi Sato, Hidenori Akaihata, Masao Kataoka, Motohide Uemura, Yoshiyuki Kojima   +12 more
wiley   +1 more source

Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2)

Molecular Genetics &Genomic Medicine, Volume 12, Issue 4, April 2024.
We provided detailed characteristics of eight individuals with genetically confirmed KCS2, which has been the largest cohort of KCS2 so far in China. We present the first genetically confirmed instance of father‐to‐daughter transmission of KCS2, which demonstrates an equal sex ratio of affected individuals.
Xuefei Chen, Chaochun Zou
wiley   +1 more source

Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder

Case Reports in Endocrinology, Volume 2024, Issue 1, 2024.
Summary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital lipoid adrenal hyperplasia. Case.
Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G. de los Santos Aguilar, Luis David Sol Oliva, Toshihiro Kita   +6 more
wiley   +1 more source

Relationship of transcriptional markers to Leydig cell number in the mouse testis [PDF]

, 2019
ObjectivesThe current study aims to identify markers that would reflect the number of Leydig cells present in the testis, to help determine whether labour-intensive methods such as stereology are necessary.
Ana Monteiro, Sarah Smith, Diane Rebourcet (153547), Jeffery, Nathan, Lee B. Smith (161960), Rebourcet, Diane, Smith, Lee B., Lyndsey Cruickshanks (619709), O'Shaughnessy, Peter J, Laura Milne (161963), Nathan Jeffery (324890), Lyndsey Cruickshanks, Peter J. O’Shaughnessy (171628), Lee B Smith, Peter J O'Shaughnessy, Diane Rebourcet, Nathan Jeffery, Cruickshanks, Lyndsey, Milne, Laura, Monteiro, Ana, Smith, Sarah, O'Shaughnessy, Peter J., Smith, Lee B, Sarah Smith (63540), Laura Milne, Ana Monteiro (171632)   +25 more
core   +1 more source

Indispensable Roles of COUP-TFII in Progenitor Leydig Cell Differentiation.

, 2013
A) Evaluation of Leydig cell differentiation in the mutant testes, indicated by Leydig cell marker 3β-HSD immunostaining. The samples were collected at P14, P21, P28, P60 and P90, which correspond to 0, 7, 14, 46 and 76 days after tamoxifen injection ...
Jun Qin (56379), Ming-Jer Tsai (72889), Sophia Y. Tsai (72890)   +2 more
core   +1 more source

Leydig Cell Tumor of the Testis: A Case with Incidental Diagnosis

, 2019
Leydig cell tumors account for approximately 1-3% of adult testicular tumors. These tumors are the most common type of gonadal stromal tumors and most commonly seen in the third to sixth decades of life, and about 10% of them are malignant.
Ömer Koraş, Evren Aldemir, Mehmet Erhan Aydın, Funda Taşlı, Ali Erhan Eren   +4 more
core   +1 more source