PMID- 31070017
OWN - NLM
STAT- MEDLINE
DCOM- 20200715
LR  - 20210109
IS  - 2324-9269 (Electronic)
IS  - 2324-9269 (Linking)
VI  - 7
IP  - 7
DP  - 2019 Jul
TI  - Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report 
      and a review of literature.
PG  - e00732
LID - 10.1002/mgg3.732 [doi]
LID - e00732
AB  - BACKGROUND: Turner syndrome (TS) is a common chromosomal disorder affecting 
      approximately 1:2,500 live female births. Mosaic 47,XXX karyotype is found in 
      3%-4% of TS patients. TS phenotype in rare 45,X/47,XXX mosaicism patients is 
      milder than in classic TS, however their ovarian function, especially in the 
      mature age, has not been described in detail. METHODS: A case report and 
      literature review. RESULTS: A 30-year-old woman with menstrual irregularity and 
      primary infertility presented with short stature and multiple nevi on the face 
      without other common TS clinical features. She had spontaneous puberty and 
      menarche but diminished ovarian reserve at the age of 30. Fluorescence in situ 
      hybridization (FISH) indicated 45,X/47,XXX mosaicism, which was once misdiagnosed 
      as 45,X monosomy. Literature review revealed the prevalence of short stature in 
      only 64.3% of 45,X/47,XXX mosaicism cases, that is, much less frequently than in 
      pure 45,X monosomy. The risk of premature ovarian insufficiency in 45,X/47,XXX 
      mosaicism patients is higher, and ovarian failure is usually observed at around 
      30 years of age. CONCLUSION: FISH should be recommended to evaluate low 
      proportion mosaicism in similar cases. Due to the risk of ovarian failure, 
      fertility preservation for patients with 45,X/47,XXX mosaicism at a younger age 
      must be considered.
CI  - (c) 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley 
      Periodicals, Inc.
FAU - Tang, Ruiyi
AU  - Tang R
AUID- ORCID: 0000-0001-7091-7832
AD  - Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, 
      Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 
      People's Republic of China.
FAU - Lin, Lin
AU  - Lin L
AD  - Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, 
      Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 
      People's Republic of China.
AD  - Department of Obstetrics and Gynecology, The Maternal & Child Health Hospital of 
      Guangxi Zhuang Autonomous Region, Guangxi, People's Republic of China.
FAU - Guo, Zaixin
AU  - Guo Z
AD  - Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, 
      Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 
      People's Republic of China.
FAU - Hou, Haiyan
AU  - Hou H
AD  - Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, 
      Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 
      People's Republic of China.
AD  - Obstetrics and Gynecology, Characteristic Medical Center of PAP, Tianjin, 
      People's Republic of China.
FAU - Yu, Qi
AU  - Yu Q
AUID- ORCID: 0000-0001-9737-5957
AD  - Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, 
      Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 
      People's Republic of China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20190508
PL  - United States
TA  - Mol Genet Genomic Med
JT  - Molecular genetics & genomic medicine
JID - 101603758
RN  - Triple X syndrome
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, X/genetics
MH  - Female
MH  - Humans
MH  - Karyotype
MH  - Karyotyping/methods
MH  - Mosaicism
MH  - Ovarian Reserve/*genetics
MH  - Sex Chromosome Aberrations
MH  - Sex Chromosome Disorders of Sex Development/genetics
MH  - Trisomy/genetics
MH  - Turner Syndrome/*genetics
PMC - PMC6625135
OTO - NOTNLM
OT  - 45,X/47,XXX mosaicism
OT  - Turner syndrome
OT  - fertility
OT  - karyotype
OT  - primary ovarian insufficiency
COIS- The authors report no conflicts of interest in this work.
EDAT- 2019/05/10 06:00
MHDA- 2020/07/16 06:00
PMCR- 2019/05/08
CRDT- 2019/05/10 06:00
PHST- 2019/03/15 00:00 [received]
PHST- 2019/04/21 00:00 [revised]
PHST- 2019/04/22 00:00 [accepted]
PHST- 2019/05/10 06:00 [pubmed]
PHST- 2020/07/16 06:00 [medline]
PHST- 2019/05/10 06:00 [entrez]
PHST- 2019/05/08 00:00 [pmc-release]
AID - MGG3732 [pii]
AID - 10.1002/mgg3.732 [doi]
PST - ppublish
SO  - Mol Genet Genomic Med. 2019 Jul;7(7):e00732. doi: 10.1002/mgg3.732. Epub 2019 May 
      8.