A case of 46,X,der(X)(pter -> q21 :: p21 -> pter) with gonadal dysgenesis,tall stature, and endometriosis

Objective: To report a case of 46,X,der(X)(pter --> q21::p21 --> zpter) wit h gonadal dysgenesis, tall stature, and endometriosis. Design: Case report. Setting: A university hospital. Patient(s): A 20-year-old primary amenorrheal woman receiving estrogen-prog estogen substitution. Intervention(s): G-banding, comparative genomic hybridization, fluorescence in situ hybridization (FISH), and laparoscopy. Main Outcome Measure(s): A recombinant X chromosome, 46,X,der(X)(pter --> q 21::p21 --> pter), and pelvic endometriosis. Result(s): The patient's chromosomal abnormality was misjudged by the use o f G-banding as a distal part deletion of the long arm in one X chromosome. Comparative genomic hybridization and fluorescence in situ hybridization an alyses with locus-specific probes revealed 46,X,der(X)(pter --> q21::p21 -- > pter). The laparoscopic examination showed bilateral streak gonads and bl ue berry spots at the pelvic peritoneum, which were confirmed by evaluation of biopsy specimens. Conclusion(s): Recent advances of genetic strategies make it easy to determ ine karyotype and phenotype abnormalities. We have to keep our mind on the potential of endometriosis with patients who are receiving estrogen-progest ogen substitution. (Fertil Steril(R) 2001;75:1224-5. (C) 2001 by American S ociety for Reproductive Medicine.).