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Page 1
Androgens and spermatogenesis.
Christin-Maitre S, Young J. Christin-Maitre S, et al. Ann Endocrinol (Paris). 2022 Jun;83(3):155-158. doi: 10.1016/j.ando.2022.04.010. Epub 2022 Apr 27. Ann Endocrinol (Paris). 2022. PMID: 35489414
Furthermore, testicular histology of men with LH receptor mutations shows Leydig cell hypoplasia/agenesis/dysplasia with conserved Sertoli cell count. The sperm count is reduced, as in males with partial inactivating mutation of the androgen receptor. ...
Furthermore, testicular histology of men with LH receptor mutations shows Leydig cell hypoplasia/agenesis/dysplasia wit …
Diseases caused by mutations in luteinizing hormone/chorionic gonadotropin receptor.
Qiao J, Han B. Qiao J, et al. Prog Mol Biol Transl Sci. 2019;161:69-89. doi: 10.1016/bs.pmbts.2018.09.007. Epub 2018 Nov 23. Prog Mol Biol Transl Sci. 2019. PMID: 30711030 Review.
Familial male-limited precocious puberty, Leydig cell hypoplasia, and empty follicle syndrome are caused by LHCGR mutations. More than 50 mutations have been reported from subjects of different ethnic backgrounds. ...
Familial male-limited precocious puberty, Leydig cell hypoplasia, and empty follicle syndrome are caused by LHCGR mutat …
A rare cause of primary amenorrhea: LHCGR gene mutations.
Aktar Karakaya A, Çayır A, Unal E, Beştaş A, Ece Solmaz A, Kenan Haspolat Y. Aktar Karakaya A, et al. Eur J Obstet Gynecol Reprod Biol. 2022 May;272:193-197. doi: 10.1016/j.ejogrb.2022.03.033. Epub 2022 Mar 19. Eur J Obstet Gynecol Reprod Biol. 2022. PMID: 35366614
Inactivating mutations in this gene lead to Leydig cell hypoplasia (LCH), and cause disorders of sex development (DSD) in patients with 46,XY. ...
Inactivating mutations in this gene lead to Leydig cell hypoplasia (LCH), and cause disorders of sex development (DSD) …
Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome.
Wang C, Tian Q. Wang C, et al. Front Endocrinol (Lausanne). 2025 Oct 14;16:1600343. doi: 10.3389/fendo.2025.1600343. eCollection 2025. Front Endocrinol (Lausanne). 2025. PMID: 41163677 Free PMC article. Review.
The diagnosis of CAIS after puberty is similar to the diagnostic workflow of PA with additional tests and should be differentiated with PA-related etiologies and other kinds of DSD, such as Swyer syndrome, Mayer-Rokitanskey-Kuster-Hauser syndrome, Leydig cell hyp …
The diagnosis of CAIS after puberty is similar to the diagnostic workflow of PA with additional tests and should be differentiated with PA-r …
Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.
Hassan HA, Mazen I, Elaidy A, Kamel AK, Eissa NR, Essawi ML. Hassan HA, et al. Hormones (Athens). 2024 Jun;23(2):305-312. doi: 10.1007/s42000-024-00546-x. Epub 2024 Mar 25. Hormones (Athens). 2024. PMID: 38526829 Free PMC article.
PURPOSE: Leydig cell hypoplasia (LCH) type II is a rare disease with only a few cases reported. ...CONCLUSION: Our research provides a more comprehensive clinical and genetic spectrum of Leydig cell hypoplasia type II. It highlighted the …
PURPOSE: Leydig cell hypoplasia (LCH) type II is a rare disease with only a few cases reported. ...CONCLUSION: Our rese …
A novel variant in LCHGR gene in 3 siblings with type 1 Leydig cell hypoplasia.
Aktar Karakaya A, Unal E, Beştaş A, Taş F, Onay H, Haspolat YK. Aktar Karakaya A, et al. Gynecol Endocrinol. 2020 Dec;36(12):1136-1139. doi: 10.1080/09513590.2020.1789859. Epub 2020 Jul 10. Gynecol Endocrinol. 2020. PMID: 32654531 Free article.
INTRODUCTION: Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. ...
INTRODUCTION: Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorde …
Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I.
Hassan HA, Essawi ML, Mekkawy MK, Mazen I. Hassan HA, et al. Hormones (Athens). 2020 Dec;19(4):573-579. doi: 10.1007/s42000-020-00226-6. Epub 2020 Jul 14. Hormones (Athens). 2020. PMID: 32666356
PURPOSE: Leydig cell hypoplasia is a rare autosomal recessive 46,XY disorder of sexual development (DSD). ...RESULTS: All investigations suggested 46,XY DSD and Leydig cell hypoplasia. Molecular analysis showed two novel homozygous inacti …
PURPOSE: Leydig cell hypoplasia is a rare autosomal recessive 46,XY disorder of sexual development (DSD). ...RESULTS: A …
Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family.
Alla A, Ongoth FEM, Tahiri A, Karrou M, Rouf S, Benhaddou H, Kamaoui I, Mcelreavey K, Latrech H. Alla A, et al. J Pediatr Endocrinol Metab. 2022 Jun 6;35(9):1215-1221. doi: 10.1515/jpem-2021-0717. Print 2022 Sep 27. J Pediatr Endocrinol Metab. 2022. PMID: 35670320
OBJECTIVES: We present the first cases of two male brothers with Leydig cell hypoplasia secondary to a novel mutation in the LHCGR gene that has never been described before. CASE PRESENTATION: We report the case of two brothers with Leydig cell …
OBJECTIVES: We present the first cases of two male brothers with Leydig cell hypoplasia secondary to a novel mutation i …
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1.
Xu Y, Chen Y, Li N, Hu X, Li G, Ding Y, Li J, Shen Y, Wang X, Wang J. Xu Y, et al. J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):239-245. doi: 10.1515/jpem-2016-0445. J Pediatr Endocrinol Metab. 2018. PMID: 29305568
BACKGROUND: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). ...
BACKGROUND: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentia …
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia.
Yan M, Dilihuma J, Luo Y, Reyilanmu B, Shen Y, Mireguli M. Yan M, et al. J Clin Res Pediatr Endocrinol. 2019 May 28;11(2):211-217. doi: 10.4274/jcrpe.galenos.2018.2018.0197. Epub 2018 Nov 16. J Clin Res Pediatr Endocrinol. 2019. PMID: 30444213 Free PMC article.
Inactive variants of the LHCGR gene cause Leydig cell hypoplasia (LCH), which is a rare disease and one of the causes of disorder of sexual differentiation (DSD) in males. ...
Inactive variants of the LHCGR gene cause Leydig cell hypoplasia (LCH), which is a rare disease and one of the causes o …