Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report

BMC Pregnancy and Childbirth

Kadi Tilk¹  Lidiia Zhytnik¹  Signe Mölder¹  Neeme Tõnisson²  Maire Peters³  Kaarel Krjutškov³  Andres Salumets⁴  Hindrek Teder⁵  Piret Ilisson⁶  Ülle Murumets⁶  Tiia Reimand⁷  Tiina Kahre⁷  Eva-Liina Ustav⁸  Aivar Ehrenberg⁸ 

[1] Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia;Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia;Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia;Institute of Genomics, University of Tartu, Tartu, Estonia;Department of Reproductive Medicine, West Tallinn Central Hospital, Tallinn, Estonia;Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia;Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia;Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia;Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia;Division of Obstetrics and Gynaecology, Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden;Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia;Institute of Bio- and Translational Medicine, University of Tartu, Tartu, Estonia;Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia;Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia;Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia;Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia;Women’s Clinic, Tartu University Hospital, Tartu, Estonia;

关键词: ICSI;    oligozoospermia;    SRY;    sexual development disorders;    prenatal diagnosis;    NIPT;   

DOI  :  10.1186/s12884-022-04431-6

来源: Springer

【 摘 要 】

BackgroundPermanent progression of paternal age and development of reproductive medicine lead to increase in number of children conceived with assisted reproductive techniques (ART). Although it is uncertain if ARTs have direct influence on offspring health, advanced paternal age, associated comorbidities and reduced fertility possess significant risks of genetic disorders to the offspring.With a broad implementation of a non-invasive prenatal testing (NIPT), more cases of genetic disorders, including sex discordance are revealed. Among biological causes of sex discordance are disorders of sexual development, majority of which are associated with the SRY gene.Case presentationWe report a case of a non-invasive prenatal testing and ultrasound sex discordance in a 46,XY karyotype female fetus with an SRY pathogenic variant, who was conceived through an intracytoplasmic sperm injection (ICSI) due to severe oligozoospermia of the father.Advanced mean age of ICSI patients is associated with risk of de novo mutations and monogenic disorders in the offspring. Additionally, ICSI patients have higher risk to harbour infertility-predisposing mutations, including mutations in the SRY gene. These familial and de novo genetic factors predispose ICSI-conceived children to congenital malformations and might negatively affect reproductive health of ICSI-patients’ offspring.ConclusionsOligozoospermic patients planning assisted reproduction are warranted to undergo genetic counselling and testing for possible inherited and mosaic mutations, and risk factors for de novo mutations.

【 授权许可】

CC BY