First reported convergence of premature ovarian failure and cutis marmorata telangiectatica congenita

Abstract

Objective To describe the convergence of five rare phenotypic features in a woman with premature ovarian failure referred for reproductive endocrinology evaluation. Design Case report and literature review. Setting Major urban infertility referral center. Patient(s) A 24-year-old nulligravida with cutis marmorata telangiectatica congenita (CMTC), premature ovarian failure, unilateral ovarian agenesis, septate uterus, and de novo balanced autosomal translocation. Intervention(s) High-resolution chromosomal evaluation, radiographic study of reproductive organs, and assessment of endogenous estrogen production. Main outcome measure(s) Patient counseling regarding future reproductive options (i.e., donor oocyte in vitro fertilization/embryo transfer), and satisfactory management of hypoestrogenism using oral contraceptives. Result(s) We identified a balanced reciprocal translocation 46,XX t(8;9)(q22.1;p24.1), and confirmed unilateral ovarian agenesis with midline intrauterine septum. Conclusion(s) Although genetic factors considered contributory to premature ovarian failure usually involve the X chromosome, in our patient a previously undescribed autosomal translocation was identified in association with CMTC, a rare vascular disorder. The fundamental role of follicular oxygenation in oocyte competence and subsequent ovarian function is discussed. From the clinical and laboratory findings evident in this unusual case, a developmental hypothesis connecting the vascular abnormalities of CMTC and premature ovarian failure is offered.