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-->pter) with gonadal dysgenesis, tall stature, and endometriosis.


METHODS
Case report.


METHODS
A university hospital.


METHODS
A 20-year-old primary amenorrheal woman receiving estrogen-progestogen substitution.


METHODS
G-banding, comparative genomic hybridization, fluorescence in situ hybridization (FISH), and laparoscopy.


METHODS
A recombinant X chromosome, 46,X,der(X)(pter-->q21::p21-->pter), and pelvic endometriosis.


RESULTS
The patient's chromosomal abnormality was misjudged by the use of G-banding as a distal part deletion of the long arm in one X chromosome. Comparative genomic hybridization and fluorescence in situ hybridization analyses with locus-specific probes revealed 46,X,der(X)(pter-->q21::p21-->pter). The laparoscopic examination showed bilateral streak gonads and blue berry spots at the pelvic peritoneum, which were confirmed by evaluation of biopsy specimens.


CONCLUSIONS
Recent advances of genetic strategies make it easy to determine karyotype and phenotype abnormalities. We have to keep our mind on the potential of endometriosis with patients who are receiving estrogen-progestogen substitution.
Nakamura
Y
Y
Department of Obstetrics and Gynecology, Yamaguchi University School of Medicine, Ube, Japan. yasu-ygc@umin.ac.jp
Suehiro
Y
Y
Sugino
N
N
Sasaki
K
K
Kato
H
H
D000328:Adult; D001827:Body Height / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004715:Endometriosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D006059:Gonadal Dysgenesis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009693:Nucleic Acid Hybridization; D012729:Sex Chromosome Aberrations; D014960:X Chromosome