PMID- 29739732
OWN - NLM
STAT- MEDLINE
DCOM- 20190603
LR  - 20200225
IS  - 1308-5735 (Electronic)
IS  - 1308-5727 (Print)
VI  - 11
IP  - 1
DP  - 2019 Feb 20
TI  - Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal 
      Influence in a Patient with Turner Syndrome.
PG  - 88-93
LID - 10.4274/jcrpe.galenos.2018.2018.0005 [doi]
AB  - We report a detailed phenotypic, cytogenetic and molecular characterization of a 
      patient prenatally diagnosed with Turner syndrome (TS). In addition to having 
      typical TS clinical characteristics including webbed neck, high arched palate and 
      coarctation of the aorta, the patient had features less frequently seen in TS. 
      These included recurrent parathyroid adenomas, growth along the 75(th)-90(th) 
      centiles on the TS height curve despite minimal treatment with growth hormone, 
      behavioral problems and evidence of gonadal dysgenesis with testicular-like 
      structures, such as seminiferous tubules lined by Sertoli cells and a contiguous 
      nodule of Leydig cells. While fluorescence in situ hybridization (FISH) failed to 
      detect Y-chromosome material in gonadal tissue or blood samples, chromosomal 
      microarray analysis (CMA) confirmed X monosomy and a 4.69 Mb copy number loss on 
      1q31.2q31.3 (bp 192,715,814 to 197,401,180). This region contains the CDC73 gene 
      which has been associated with hyperparathyroidism-jaw tumor syndrome, features 
      of which include recurrent, functional parathyroid adenomas and behavioral 
      issues. This case illustrates how atypical features in a TS patient, such as 
      robust growth and recurrent parathyroid adenomas, may suggest an underlying 
      molecular etiology that should be explored by additional genetic diagnostic 
      modalities. It is therefore appropriate in such cases to conduct further genetic 
      testing, such as CMA and FISH, to explore other diagnostic possibilities and 
      possibly prevent further complications.
FAU - Siller, Alejandro F
AU  - Siller AF
AUID- ORCID: 0000-0003-1020-4552
AD  - Washington University Faculty of Medicine, Department of Pediatrics, Washington, 
      USA
FAU - Shimony, Alex
AU  - Shimony A
AUID- ORCID: 0000-0002-8220-5020
AD  - Washington University Faculty of Medicine, Department of Pediatrics, Washington, 
      USA
FAU - Shinawi, Marwan
AU  - Shinawi M
AUID- ORCID: 0000-0003-1329-4100
AD  - Washington University Faculty of Medicine, Department of Pediatrics, Washington, 
      USA
FAU - Amarillo, Ina
AU  - Amarillo I
AUID- ORCID: 0000-0001-8479-4298
AD  - Washington University Faculty of Medicine, Department of Pathology and 
      Immunology, Washington, USA
FAU - Dehner, Louis P
AU  - Dehner LP
AUID- ORCID: 0000-0002-2007-5638
AD  - Washington University Faculty of Medicine, Department of Pathology and 
      Immunology, Washington, USA
FAU - Semenkovich, Katherine
AU  - Semenkovich K
AUID- ORCID: 0000-0003-1347-1525
AD  - Washington University Faculty of Medicine, Department of Pediatrics, Washington, 
      USA
FAU - Arbelaez, Ana Maria
AU  - Arbelaez AM
AUID- ORCID: 0000-0001-6977-9786
AD  - Washington University Faculty of Medicine, Department of Pediatrics, Washington, 
      USA
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20180509
PL  - Turkey
TA  - J Clin Res Pediatr Endocrinol
JT  - Journal of clinical research in pediatric endocrinology
JID - 101519456
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Chromosomes, Human, X/*genetics
MH  - Chromosomes, Human, Y/*genetics
MH  - Female
MH  - Humans
MH  - *Hyperparathyroidism/genetics/pathology/physiopathology
MH  - Monosomy
MH  - Sequence Deletion
MH  - *Turner Syndrome/genetics/pathology/physiopathology
MH  - Young Adult
PMC - PMC6398186
OTO - NOTNLM
OT  - Turner syndrome
OT  - genetic testing
OT  - hyperparathyroidism
OT  - inherited 1q deletion
OT  - signs of Y-chromosomal influence
EDAT- 2018/05/10 06:00
MHDA- 2019/06/04 06:00
PMCR- 2019/03/01
CRDT- 2018/05/10 06:00
PHST- 2018/05/10 06:00 [entrez]
PHST- 2018/05/10 06:00 [pubmed]
PHST- 2019/06/04 06:00 [medline]
PHST- 2019/03/01 00:00 [pmc-release]
AID - 17109 [pii]
AID - 10.4274/jcrpe.galenos.2018.2018.0005 [doi]
PST - ppublish
SO  - J Clin Res Pediatr Endocrinol. 2019 Feb 20;11(1):88-93. doi: 
      10.4274/jcrpe.galenos.2018.2018.0005. Epub 2018 May 9.