McGlacken-Byrne SM, Le Quesne Stabej P, Del Valle I, Ocaka L, Gagunashvili A, Crespo B, Moreno N, James C, Bacchelli C, Dattani MT, Williams HJ, Kelberman D, Achermann JC, Conway GS. ZSWIM7 is associated with human female meiosis and familial primary ovarian insufficiency. J Clin Endocrinol Metab. 2022;107(1):e254-63. https://doi.org/10.1210/clinem/dgab597.

Article  PubMed  Google Scholar 

Persani L, Rossetti R, Cacciatore C. Genes involved in human premature ovarian failure. J Mol Endocrinol. 2010;45(5):257–79. https://doi.org/10.1677/JME-10-0070.

Article  CAS  PubMed  Google Scholar 

Ghosh S, Roy S, Halder A. Study of frequency and types of chromosomal abnormalities in phenotypically female patients with amenorrhea in Eastern Indian population. J Obstet Gynaecol Res. 2020;46(9):1627–38. https://doi.org/10.1111/jog.14318.

França MM, Mendonca BB. Genetics of primary ovarian insufficiency in the next-generation sequencing era. J Endocr Soc. 2019;4(2):bvz037. https://doi.org/10.1210/jendso/bvz037.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ballow D, Meistrich ML, Matzuk M, Rajkovic A. Sohlh1 is essential for spermatogonial differentiation. Dev Biol. 2006;294(1):161–7. https://doi.org/10.1016/j.ydbio.

Article  CAS  PubMed  Google Scholar 

Pangas SA, Choi Y, Ballow DJ, Zhao Y, Westphal H, Matzuk MM, Rajkovic A. Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8. Proc Natl Acad Sci U S A. 2006;103(21):8090–5. https://doi.org/10.1073/pnas.0601083103.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Unal-Gulsuner H, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocr Metab. 2015;100(5):E808-14. https://doi.org/10.1210/jc.2015-1150.

Article  PubMed  PubMed Central  Google Scholar 

Warnnissorn M, Watkins JC, Young RH. Dysgerminoma of the ovary; an analysis of 140 cases emphasizing unusual microscopic findings and resultant diagnostic problems. Am J Surg Pathol. 2021;45(8):1009–27. https://doi.org/10.1097/PAS.0000000000001687.

Article  PubMed  Google Scholar 

Morin J, Peard L, Saltzman AF. Gonadal malignancy in patients with differences of sex development. Transl Androl Urol. 2020;9(5):2408–15. https://doi.org/10.21037/tau-19-726.

Raafey MA, Abdulwaasey M, Fatima SS, Uddin Z, Tariq MU. Bilateral gonadoblastoma with dysgerminoma in a phenotypically normal female with 46XX karyotype: report of a rare case and literature review. Cureus. 2020;12(7):e8990. https://doi.org/10.7759/cureus.8990.

Article  PubMed  PubMed Central  Google Scholar 

Choi Y, Jeon S, Choi M, Lee M, Park M, Lee DR, Jun KY, Kwon Y, Lee OH, Song SH, Kim JY, Lee KA, Yoon TK, Rajkovic A, Shim SH. Mutations in SOHLH1 gene associate with nonobstructive azoospermia. Hum Mutat. 2010;31(7):788–93. https://doi.org/10.1002/humu.21264.

Article  CAS  PubMed  Google Scholar 

Liu M, Yang Y, Wang Y, Chen S, Shen Y. The mutation c.346-1G \(>\) A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition. Hum Mol Genet. 2022;31(7):1013–21. https://doi.org/10.1093/hmg/ddab242.

Toyoda S, Yoshimura T, Mizuta J, Miyazaki J. Auto-regulation of the Sohlh1 gene by the SOHLH2/SOHLH1/SP1 complex: implications for early spermatogenesis and oogenesis. PLoS One. 2014;9(7):e101681. https://doi.org/10.1371/journal.pone.0101681.

Article  PubMed  PubMed Central  Google Scholar 

Mellone S, Zavattaro M, Vurchio D, Ronzani S, Caputo M, Leone I, Prodam F, Giordano M. A long contiguous stretch of homozygosity disclosed a novel STAG3 biallelic pathogenic variant causing primary ovarian insufficiency: a case report and review of the literature. Genes (Basel). 2021;12(11):1709. https://doi.org/10.3390/genes12111709.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, Garcia-Tunon I, Fellous M, Pendas AM, Veitia RA, Vilain E. Mutant cohesin in premature ovarian failure. N Engl J Med. 2014;370(10):943–9. https://doi.org/10.1056/NEJMoa1309635.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Giambartolomei C, Mueller CM, Greene MH, Korde LA. A mini-review of familial ovarian germ cell tumors: an additional manifestation of the familial testicular germ cell tumor syndrome. Cancer Epidemiol. 2009;33(1):31–6. https://doi.org/10.1016/j.canep.2009.04.015.

Article  PubMed  PubMed Central  Google Scholar 

Husaini HAL, Soudy H, El Din Darwish A, Ahmed M, Eltigani A, Mubarak MAL, Sabaa AA, Edesa W, L-Tweigeri TA, Al-Badawi IA. Pure dysgerminoma of the ovary: a single institutional experience of 65 patients. Med Oncol. 2012;29(4):2944–8. https://doi.org/10.1007/s12032-012-0194-z.

Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns. 2008;17(5):424–33. https://doi.org/10.1007/s10897-008-9169-9.