A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/16:10332807

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

—

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2016

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Hormone Research in Paediatrics

ISSN

1663-2818

e-ISSN

—

Svazek periodika

86

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

CH - Švýcarská konfederace

Počet stran výsledku

8

Strana od-do

349-356

Kód UT WoS článku

000391002600010

EID výsledku v databázi Scopus

2-s2.0-84980378644