PMID- 33342535
OWN - NLM
STAT- MEDLINE
DCOM- 20210825
LR  - 20210825
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 115
IP  - 5
DP  - 2021 May
TI  - Why are some patients with 45,X Turner syndrome fertile? A young girl with 
      classical 45,X Turner syndrome and a cryptic mosaicism in the ovary.
PG  - 1280-1287
LID - S0015-0282(20)32674-1 [pii]
LID - 10.1016/j.fertnstert.2020.11.006 [doi]
AB  - OBJECTIVE: To report a case of a young girl initially diagnosed with exclusively 
      45,X Turner syndrome (TS), but with a cryptic mosaicism in the ovary. DESIGN: 
      Case report. SETTING: Radboud University Medical Center in the Netherlands. 
      PATIENT(S): A 14-year-old girl with TS showing an exclusively 45,X cell line in 
      lymphocytes, buccal cells, and urine cells in the presence of ovarian follicles. 
      INTERVENTION(S): Laparoscopic unilateral oophorectomy was performed to obtain 
      ovarian cortex tissue for fertility preservation purposes. One cortex fragment 
      was used to determine the number of follicles by serial sectioning and staining, 
      to perform fluorescence in situ hybridization (FISH) analysis and an in vitro 
      growth (IVG) assay. MAIN OUTCOME MEASURE(S): FISH analysis of ovarian cells and 
      the capacity of unilaminar follicles to develop to secondary follicles. 
      RESULT(S): FISH analysis revealed that most oocytes had a normal tetraploid X 
      chromosomal content, the stromal cell compartment had both 45,X and 47,XXX cell 
      lines, and all follicular granulosa cells had a 45,X karyotype. IVG assay showed 
      that unilaminar follicles were capable of maturing to secondary follicles, but 
      that the granulosa layers and membrana granulosa were distorted. CONCLUSION(S): 
      We report a case where follicles were found in a girl with monosomic TS, in the 
      presence of a cryptic mosaicism. Karyotyping of extraovarian cells was not 
      predictive of the karyotype of ovarian cells in the same patient. Despite the 
      presence of normal oocytes, our observation that all analyzed follicles contained 
      exclusively 45,X granulosa cells embedded in mosaic 45,X/47,XXX stromal tissue 
      may have functional consequences for follicular development. CLINICAL TRIAL 
      REGISTRATION NUMBER: NCT03381300.
CI  - Copyright (c) 2020 The Authors. Published by Elsevier Inc. All rights reserved.
FAU - Nadesapillai, Sapthami
AU  - Nadesapillai S
AD  - Department of Obstetrics and Gynecology, Radboud University Medical Center, 
      Nijmegen, The Netherlands. Electronic address: 
      sapthami.nadesapillai@radboudumc.nl.
FAU - van der Velden, Janielle
AU  - van der Velden J
AD  - Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The 
      Netherlands.
FAU - Smeets, Dominique
AU  - Smeets D
AD  - Department of Human Genetics, Radboud University Medical Center, Nijmegen, The 
      Netherlands.
FAU - van de Zande, Guillaume
AU  - van de Zande G
AD  - Department of Human Genetics, Radboud University Medical Center, Nijmegen, The 
      Netherlands.
FAU - Braat, Didi
AU  - Braat D
AD  - Department of Obstetrics and Gynecology, Radboud University Medical Center, 
      Nijmegen, The Netherlands.
FAU - Fleischer, Kathrin
AU  - Fleischer K
AD  - Department of Obstetrics and Gynecology, Radboud University Medical Center, 
      Nijmegen, The Netherlands; The Fertility Partnership-VivaNeo Center of 
      Reproductive Medicine, Dusseldorf, Germany.
FAU - Peek, Ronald
AU  - Peek R
AD  - Department of Obstetrics and Gynecology, Radboud University Medical Center, 
      Nijmegen, The Netherlands.
LA  - eng
SI  - ClinicalTrials.gov/NCT03381300
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20201217
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
CIN - Fertil Steril. 2021 May;115(5):1173-1174. PMID: 33795139
MH  - Adolescent
MH  - Cryopreservation
MH  - Female
MH  - Fertility/*physiology
MH  - Fertility Preservation
MH  - Humans
MH  - Karyotype
MH  - *Mosaicism
MH  - Netherlands
MH  - Ovarian Follicle
MH  - Ovariectomy
MH  - Ovary/*metabolism/pathology
MH  - Turner Syndrome/diagnosis/*genetics/pathology/therapy
OTO - NOTNLM
OT  - Turner syndrome
OT  - fertility preservation
OT  - karyotyping
OT  - mosaicism
OT  - ovarian tissue cryopreservation
EDAT- 2020/12/22 06:00
MHDA- 2021/08/26 06:00
CRDT- 2020/12/21 05:35
PHST- 2020/07/16 00:00 [received]
PHST- 2020/11/03 00:00 [revised]
PHST- 2020/11/04 00:00 [accepted]
PHST- 2020/12/22 06:00 [pubmed]
PHST- 2021/08/26 06:00 [medline]
PHST- 2020/12/21 05:35 [entrez]
AID - S0015-0282(20)32674-1 [pii]
AID - 10.1016/j.fertnstert.2020.11.006 [doi]
PST - ppublish
SO  - Fertil Steril. 2021 May;115(5):1280-1287. doi: 10.1016/j.fertnstert.2020.11.006. 
      Epub 2020 Dec 17.