First reported convergence of premature ovarian failure and cutis marmorata telangiectatica congenita.
OBJECTIVE
To describe the convergence of five rare phenotypic features in a woman with premature ovarian failure referred for reproductive endocrinology evaluation.


METHODS
Case report and literature review.


METHODS
Major urban infertility referral center.


METHODS
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.


METHODS
High-resolution chromosomal evaluation, radiographic study of reproductive organs, and assessment of endogenous estrogen production.


METHODS
Patient counseling regarding future reproductive options (i.e., donor oocyte in vitro fertilization/embryo transfer), and satisfactory management of hypoestrogenism using oral contraceptives.


RESULTS
We identified a balanced reciprocal translocation 46,XX t(8;9)(q22.1;p24.1), and confirmed unilateral ovarian agenesis with midline intrauterine septum.


CONCLUSIONS
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.
Sills
E Scott
ES
Georgia Reproductive Specialists LLC, Atlanta, Georgia 30342, USA. dr.sills@ivf.com
Harmon
Kallyn E
KE
Tucker
Michael J
MJ
D000015:Abnormalities, Multiple; D000328:Adult; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D006801:Humans; D010053:Ovary / Q000002:abnormalities; D016649:Primary Ovarian Insufficiency / Q000150:complications*; D017445:Skin Diseases, Vascular / Q000150:complications* / Q000151:congenital* / Q000235:genetics; D013684:Telangiectasis / Q000150:complications* / Q000151:congenital* / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics; D014599:Uterus / Q000002:abnormalities