Endocrine Abstracts

JOINT3727

Introduction: Turner syndrome (TS) is the most common chromosomal abnormality in women, occurring in approximately 1 in 2,500 live births. Spontaneous pregnancies in individuals with TS are rare, with an incidence ranging from 1.8% to 7.6%. We report a case of three spontaneous pregnancies in a patient with TS.

Observation: A 31-year-old female with no significant past medical or family history presented for evaluation. She reported menarche at the age of 12, with subsequent regular menstrual cycles. Physical examination did not reveal any evidence of growth retardation or dysmorphic features typically associated with TS. The patient had three spontaneous pregnancies throughout her reproductive life. The first pregnancy was terminated in the second trimester after the discovery of a malformation syndrome. Chromosomal analysis confirmed a diagnosis of Turner’s mosaic syndrome, with a karyotype of 45,×/46, XX. Further evaluation for common comorbidities associated with TS, including cardiac anomalies, was negative, with no evidence of cardiac malformations. The patient then conceived two more times, with both pregnancies progressing without significant complications. Both were carried to term, delivered vaginally, and resulted in the birth of two healthy female neonates, each with a normal karyotype (46,XX).

Discussion: TS is strongly associated with hypergonadotropic hypogonadism and ovarian dysgenesis, which typically result in infertility in most affected individuals. The issue of fertility in individuals with TS has been extensively studied. Cryopreservation of mature oocytes and embryos is a well-established method for fertility preservation, while cryopreservation of ovarian tissue represents a promising, though still investigational, approach, with a growing number of successful live births. Spontaneous pregnancies, such as those observed in the present case, are rare and are more commonly seen in individuals with mosaic forms of Turner syndrome or those with distal X chromosome deletions. Cardiac malformations are considered absolute contraindications to fertility treatments due to the substantial maternal and fetal risks involved. Pregnancies in individuals with TS are associated with a significantly increased risk of miscarriage and other obstetric complications, which necessitates vigilant monitoring by a multidisciplinary medical team to optimize both maternal and fetal outcomes.