Volume 11, Issue 3 (2026)
SJMR 2026, 11(3): 123-130 |
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Nateghi M R, Alijani L, Sanaye Naderi M, Mohammadian H. Presentation of a Case of XX Male Syndrome (de la Chapelle Syndrome). SJMR 2026; 11 (3) : 4
URL: http://saremjrm.com/article-1-407-en.html
URL: http://saremjrm.com/article-1-407-en.html
1- Sarem Gynecology, Obstetrics and Infertility Research Center, Sarem Women’s Hospital, Iran University of Medical Science (IUMS), Tehran, Iran. & Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran.
2- Sarem Gynecology, Obstetrics and Infertility Research Center, Sarem Women’s Hospital, Iran University of Medical Science (IUMS), Tehran, Iran.
2- Sarem Gynecology, Obstetrics and Infertility Research Center, Sarem Women’s Hospital, Iran University of Medical Science (IUMS), Tehran, Iran.
Abstract: (14 Views)
Introduction: 46,XX testicular disorder/difference of sex development (46,XX testicular DSD), also known as De la Chapelle syndrome, is a rare disorder of sex development characterized by testicular development and a male phenotype despite a 46,XX karyotype. In most cases, translocation of the SRY gene from the Y chromosome to the X chromosome plays a central role in the pathogenesis of the condition. Discordance between fetal sex predicted by cell-free fetal DNA (cfDNA) screening and ultrasonographic findings may represent one of the earliest clues to this disorder.
Case Report: A 35-year-old woman with a history of three miscarriages and one successful delivery was followed during her fifth pregnancy. Second-trimester screening indicated a risk of 1 in 1,700 for Down syndrome. Anomaly ultrasound revealed a left choroid plexus cyst and mild bilateral pyelectasis. Cell-free DNA (cfDNA) screening, with a fetal fraction of 8.82%, indicated a low risk for the chromosomal abnormalities assessed but reported the fetal sex as female. In contrast, the fetal sex was reported as male on multiple subsequent ultrasound examinations, and a detailed ultrasonographic examination demonstrated the presence of testes. Amniocentesis was recommended; however, the parents declined the procedure. The infant was delivered by cesarean section at an appropriate gestational age, with Apgar scores of 10 and 9 at 1 and 5 minutes, respectively. Physical examination revealed a completely male phenotype. Postnatal karyotyping demonstrated a 46,XX karyotype, raising the possibility of 46,XX testicular DSD. Subsequently, SRY gene testing was performed to investigate the molecular basis underlying the condition, and the result was positive.
Conclusion: This case highlights the importance of recognizing discordance between cfDNA screening results and ultrasonographic findings. In such circumstances, careful ultrasonographic evaluation, genetic counseling, and cytogenetic and molecular investigations may play important roles in the diagnosis of DSD and in planning appropriate postnatal follow-up.
Case Report: A 35-year-old woman with a history of three miscarriages and one successful delivery was followed during her fifth pregnancy. Second-trimester screening indicated a risk of 1 in 1,700 for Down syndrome. Anomaly ultrasound revealed a left choroid plexus cyst and mild bilateral pyelectasis. Cell-free DNA (cfDNA) screening, with a fetal fraction of 8.82%, indicated a low risk for the chromosomal abnormalities assessed but reported the fetal sex as female. In contrast, the fetal sex was reported as male on multiple subsequent ultrasound examinations, and a detailed ultrasonographic examination demonstrated the presence of testes. Amniocentesis was recommended; however, the parents declined the procedure. The infant was delivered by cesarean section at an appropriate gestational age, with Apgar scores of 10 and 9 at 1 and 5 minutes, respectively. Physical examination revealed a completely male phenotype. Postnatal karyotyping demonstrated a 46,XX karyotype, raising the possibility of 46,XX testicular DSD. Subsequently, SRY gene testing was performed to investigate the molecular basis underlying the condition, and the result was positive.
Conclusion: This case highlights the importance of recognizing discordance between cfDNA screening results and ultrasonographic findings. In such circumstances, careful ultrasonographic evaluation, genetic counseling, and cytogenetic and molecular investigations may play important roles in the diagnosis of DSD and in planning appropriate postnatal follow-up.
Article number: 4
Keywords: 46, XX testicular DSD, de la Chapelle Syndrome, cfDNA, Karyotype, SRY, Disorder of Sex Development, Prenatal Screening.
Article Type: Case Report |
Subject:
Genetic disorders
Received: 2026/09/10 | Accepted: 2026/09/16 | Published: 2026/10/22
Received: 2026/09/10 | Accepted: 2026/09/16 | Published: 2026/10/22
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