Short stature in a boy with atypical progeria syndrome due to
LMNA c.433G > A [p.(Glu145Lys)]: apparent growth hormone
deficiency but poor response to growth hormone therapy

J 2019

Short stature in a boy with atypical progeria syndrome due to LMNA c.433G > A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy

TONI, Ledjona, Petra DUŠÁTKOVÁ, Dana NOVOTNÁ, Daniela ZEMKOVÁ, Štěpánka PRŮHOVÁ et. al.

Basic information

Original name

Short stature in a boy with atypical progeria syndrome due to LMNA c.433G > A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy

Authors

TONI, Ledjona (203 Czech Republic, guarantor), Petra DUŠÁTKOVÁ (203 Czech Republic), Dana NOVOTNÁ (203 Czech Republic, belonging to the institution), Daniela ZEMKOVÁ, Štěpánka PRŮHOVÁ and Jan LEBL (203 Czech Republic)

Edition

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, BERLIN, WALTER DE GRUYTER GMBH, 2019, 0334-018X

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30209 Paediatrics

Country of publisher

Germany

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 1.278

RIV identification code

RIV/00216224:14110/19:00110496

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1515/jpem-2019-0107

UT WoS

000474203700016

Keywords in English

atypical progeria syndrome; growth hormone deficiency; LMNA

Abstract

V originále

Background: Hutchinson-Gilford progeria syndrome (HGPS) is a rare disease caused by pathogenic variants in the LMNA gene, which leads to premature aging. The median life expectancy is shortened to 13 years due to cardiovascular complications. Case report: We present a boy born with a pathogenic LMNA variant c.A33G > A, which causes atypical progeria syndrome (APS) and was previously described in one single patient. When investigated for poor growth prior to the diagnosis of APS, his laboratory tests revealed growth hormone (GH) deficiency and magnetic resonance imaging (MRI) of the midbrain showed partial empty sella. Gil treatment had only a limited and transient effect. His first ischemic complication manifested at age 4.2 years; at the age of 7 years, he had a fatal haemorrhagic stroke. Conclusion: To the best of our knowledge, this is the first patient with APS showing partial empty sella and GH deficiency that might have contributed to his poor growth. Gil failed to improve long-term outcome.

Citovat

TONI, Ledjona, Petra DUŠÁTKOVÁ, Dana NOVOTNÁ, Daniela ZEMKOVÁ, Štěpánka PRŮHOVÁ and Jan LEBL. Short stature in a boy with atypical progeria syndrome due to LMNA c.433G > A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. BERLIN: WALTER DE GRUYTER GMBH, 2019, vol. 32, No 7, p. 775-779. ISSN 0334-018X. Available from: https://dx.doi.org/10.1515/jpem-2019-0107.

@article{1550518,
   author = {Toni, Ledjona and Dušátková, Petra and Novotná, Dana and Zemková, Daniela and Průhová, Štěpánka and Lebl, Jan},
   article_location = {BERLIN},
   article_number = {7},
   doi = {http://dx.doi.org/10.1515/jpem-2019-0107},
   keywords = {atypical progeria syndrome; growth hormone deficiency; LMNA},
   language = {eng},
   issn = {0334-018X},
   journal = {JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM},
   title = {Short stature in a boy with atypical progeria syndrome due to LMNA c.433G > A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy},
   url = {http://dx.doi.org/10.1515/jpem-2019-0107},
   volume = {32},
   year = {2019}
}

TY  - JOUR
ID  - 1550518
AU  - Toni, Ledjona - Dušátková, Petra - Novotná, Dana - Zemková, Daniela - Průhová, Štěpánka - Lebl, Jan
PY  - 2019
TI  - Short stature in a boy with atypical progeria syndrome due to LMNA c.433G > A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy
JF  - JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
VL  - 32
IS  - 7
SP  - 775-779
EP  - 775-779
PB  - WALTER DE GRUYTER GMBH
SN  - 0334018X
KW  - atypical progeria syndrome
KW  - growth hormone deficiency
KW  - LMNA
UR  - http://dx.doi.org/10.1515/jpem-2019-0107
L2  - http://dx.doi.org/10.1515/jpem-2019-0107
N2  - Background: Hutchinson-Gilford progeria syndrome (HGPS) is a rare disease caused by pathogenic variants in the LMNA gene, which leads to premature aging. The median life expectancy is shortened to 13 years due to cardiovascular complications. Case report: We present a boy born with a pathogenic LMNA variant c.A33G > A, which causes atypical progeria syndrome (APS) and was previously described in one single patient. When investigated for poor growth prior to the diagnosis of APS, his laboratory tests revealed growth hormone (GH) deficiency and magnetic resonance imaging (MRI) of the midbrain showed partial empty sella. Gil treatment had only a limited and transient effect. His first ischemic complication manifested at age 4.2 years; at the age of 7 years, he had a fatal haemorrhagic stroke. Conclusion: To the best of our knowledge, this is the first patient with APS showing partial empty sella and GH deficiency that might have contributed to his poor growth. Gil failed to improve long-term outcome.
ER  -

TONI, Ledjona, Petra DUŠÁTKOVÁ, Dana NOVOTNÁ, Daniela ZEMKOVÁ, Štěpánka PRŮHOVÁ and Jan LEBL. Short stature in a boy with atypical progeria syndrome due to LMNA c.433G \&{}gt; A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy. \textit{JOURNAL OF PEDIATRIC ENDOCRINOLOGY \&{}amp; METABOLISM}. BERLIN: WALTER DE GRUYTER GMBH, 2019, vol.~32, No~7, p.~775-779. ISSN~0334-018X. Available from: https://dx.doi.org/10.1515/jpem-2019-0107.

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