PMID- 11384655
OWN - NLM
STAT- MEDLINE
DCOM- 20010628
LR  - 20190707
IS  - 0015-0282 (Print)
IS  - 0015-0282 (Linking)
VI  - 75
IP  - 6
DP  - 2001 Jun
TI  - A case of 46,X,der(X)(pter-->q21::p21-->pter) with gonadal dysgenesis, tall 
      stature, and endometriosis.
PG  - 1224-5
AB  - OBJECTIVE: To report a case of 46,X,der(X)(pter-->q21::p21-->pter) with gonadal 
      dysgenesis, tall stature, and endometriosis. DESIGN: Case report. SETTING: A 
      university hospital. PATIENT(S): A 20-year-old primary amenorrheal woman 
      receiving estrogen-progestogen 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-->q21::p21-->pter), and pelvic endometriosis. RESULT(S): 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. CONCLUSION(S): 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.
FAU - Nakamura, Y
AU  - Nakamura Y
AD  - Department of Obstetrics and Gynecology, Yamaguchi University School of Medicine, 
      Ube, Japan. yasu-ygc@umin.ac.jp
FAU - Suehiro, Y
AU  - Suehiro Y
FAU - Sugino, N
AU  - Sugino N
FAU - Sasaki, K
AU  - Sasaki K
FAU - Kato, H
AU  - Kato H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Adult
MH  - Body Height/*genetics
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Endometriosis/*genetics/pathology
MH  - Female
MH  - Gene Deletion
MH  - Gonadal Dysgenesis/*genetics/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Nucleic Acid Hybridization
MH  - *Sex Chromosome Aberrations
MH  - *X Chromosome
EDAT- 2001/06/01 10:00
MHDA- 2001/06/29 10:01
CRDT- 2001/06/01 10:00
PHST- 2001/06/01 10:00 [pubmed]
PHST- 2001/06/29 10:01 [medline]
PHST- 2001/06/01 10:00 [entrez]
AID - S0015-0282(01)01807-6 [pii]
AID - 10.1016/s0015-0282(01)01807-6 [doi]
PST - ppublish
SO  - Fertil Steril. 2001 Jun;75(6):1224-5. doi: 10.1016/s0015-0282(01)01807-6.