Results 11 to 20 of about 5,328,161 (151)

A novel variant inLCHGRgene in 3 siblings with type 1 Leydig cell hypoplasia

Gynecological Endocrinology, 2020
Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. The patients with LCH are usually in the female phenotype and are presented with the complaints of no breast development and primary amenorrhea.
Amine Aktar Karakaya, Edip Unal, Aslı Beştaş, Funda Taş, Hüseyin Onay, Yusuf Kenan Haspolat   +5 more
openaire   +4 more sources

Differentiation of adult-type Leydig cells occurs in gonadotrophin-deficient mice [PDF]

, 2003
During mammalian testis development distinct generations of fetal and adult Leydig cells arise. Luteinising hormone (LH) is required for normal adult Leydig cell function and for the establishment of normal adult Leydig cell number but its role in the ...
Baker, P.J., Johnston, H., Abel, M., Charlton, H.M., O'Shaughnessy, P.J.   +4 more
core   +9 more sources

Histopathologic effects of mobile phone radiation exposure on the testes and sperm parameters: a systematic literature review of animal studies [PDF]

Frontiers in Reproductive Health
IntroductionMale infertility, often attributed to insufficient production of healthy and active sperm, can be exacerbated by electromagnetic radiation emitted from mobile phones, which disrupts normal spermatogenesis and leads to a notable decline in ...
Ebrahim Msaye Assefa, Seid Mohammed Abdu
doaj   +2 more sources

Mutant Luteinizing Hormone Receptors in a Compound Heterozygous Patient with Complete Leydig Cell Hypoplasia: Abnormal Processing Causes Signaling Deficiency [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2002
Over the past 5 yr several inactivating mutations in the LH receptor gene have been demonstrated to cause Leydig cell hypoplasia, a rare autosomal recessive form of male pseudohermaphroditism. Here, we report the identification of two new LH receptor mutations in a compound heterozygous case of complete Leydig hypoplasia and determine the cause of the ...
Martens, J.W., Lumbroso, S., Verhoef-Post, M., Georget, V., Richter-Unruh, A., Szarras-Czapnik, M., Romer, T.E., Brunner, H.G., Themmen, A.P.N., Sultan, C.   +9 more
core   +5 more sources

Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome [PDF]

Frontiers in Endocrinology
Complete androgen insensitivity syndrome (CAIS) is a rare X-linked recessive disorder of sex development (DSD) caused by androgen receptor (AR) gene mutation and present with female phenotypes with male chromosomal karyotype. Primitive bipotent gonads in
Chunqing Wang, Qinjie Tian
doaj   +2 more sources

Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia [PDF]

Hormones, 2014
Leydig cell hypoplasia is a rare autosomal recessive condition that interferes with the normal development of male external genitalia in 46,XY individuals. It is mediated by mutations in the lutropin/choriogonadotropin receptor gene, resulting in the impairment of either the binding of hormone or signal transduction.We report a 32-year-old female ...
Athanasoulia, A., Stalla, G., Auer, M.
openaire   +4 more sources

The Production of Testosterone and Gene Expression in Neonatal Testes of Rats Exposed to Diisoheptyl Phthalate During Pregnancy is Inhibited

Frontiers in Pharmacology, 2021
Background: Diisoheptyl phthalate (DIHP) is a phthalate plasticizer, which is a branched phthalate. Here, we reported the effects of gestational exposure to DIHP on testis development in male rats.Methods: Pregnant Sprague-Dawley rats were orally fed ...
Bin Ji, Zina Wen, Zina Wen, Chaobo Ni, Qiqi Zhu, Yiyan Wang, Xiaoheng Li, Ying Zhong, Ren-Shan Ge, Ren-Shan Ge   +9 more
doaj   +1 more source

46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations

Urology Case Reports, 2022
Leydig cell hypoplasia is a rare autosomal recessive condition caused by mutations in luteinizing hormone/chorionic gonadotropin receptor (LHCGR) genes in which 46, XY patients demonstrate a wide spectrum of disorders/differences of sex development (DSD)
Kiarad Fendereski, John Carey, Kathleen Timme, Katherine Hayes, Jessica Robnett, Anthony Schaeffer   +5 more
doaj   +1 more source

Evidence for Genetic Heterogeneity in Male Pseudohermaphroditism due to Leydig Cell Hypoplasia* [PDF]

The Journal of Clinical Endocrinology & Metabolism, 1999
Leydig cell aplasia or hypoplasia is a rare form of male pseudohermaphroditism resulting from inadequate fetal testicular Leydig cell differentiation. Affected individuals presented a wide phenotypic spectrum, ranging from complete female external genitalia to males with micropenis.
J C, Zenteno, P, Canto, S, Kofman-Alfaro, J P, Mendez   +3 more
openaire   +3 more sources

Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. [PDF]

PLoS Medicine, 2008
Male pseudohermaphroditism, or Leydig cell hypoplasia (LCH), is an autosomal recessive disorder in individuals with a 46,XY karyotype, characterized by a predominantly female phenotype, a blind-ending vagina, absence of breast development, primary ...
Nina Kossack, Manuela Simoni, Annette Richter-Unruh, Axel P N Themmen, Jörg Gromoll   +4 more
doaj   +1 more source