A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F16%3A10332807" target="_blank" >RIV/00064203:_____/16:10332807 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/16:10332807
Result on the web
<a href="http://dx.doi.org/10.1159/000448097" target="_blank" >http://dx.doi.org/10.1159/000448097</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1159/000448097" target="_blank" >10.1159/000448097</a>
Alternative languages
Result language
angličtina
Original language name
A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion
Original language description
Background: Terminal Xp deletion leads to SHOX haploin-sufficiency, and when it exceeds Xp22.33 it causes a variant of Turner syndrome (TS) in which gonadal function is preserved and short stature constitutes the major clinical feature. Case Report: We present a family with vertical transmission of TS that affected six women in four sequential generations. The karyotype was defined as a combination of terminal Xp deletion and terminal Xq duplication: 46, X, rec(X) inv(p21.1q27.3). All affected women had short stature, but had developed spontaneous puberty and normal fertility. Generation IV exclusively received recombinant human growth hormone (rhGH). We investigated the effect of rhGH treatment on skeletal growth and body proportion via the comparison of auxological data from an untreated 39.7-year-old mother to her 14.8-year-old rhGH-treated daughter. The adult height of the daughter was substantially better than that of the mother [160.3 cm (-0.8 SDS) and 150.0 cm (-2.7 SDS), respectively]; however, the disproportion progressed following rhGH treatment and ultimately led to a worse trunk-to-extremities ratio compared with the mother (4.8 and 3.7 SDS, respectively). Conclusion: This rare family confirms the vertical transmission of TS spanning multiple generations. The combination of endogenous estrogen production and exogenous rhGH administration in women with SHOX haploinsufficiency may worsen their body disproportion. (C) 2016 S. Karger AG, Basel
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Hormone Research in Paediatrics
ISSN
1663-2818
e-ISSN
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Volume of the periodical
86
Issue of the periodical within the volume
5
Country of publishing house
CH - SWITZERLAND
Number of pages
8
Pages from-to
349-356
UT code for WoS article
000391002600010
EID of the result in the Scopus database
2-s2.0-84980378644