TONI, Ledjona, Petra DUŠÁTKOVÁ, Dana NOVOTNÁ, Daniela ZEMKOVÁ, Štěpánka PRŮHOVÁ a 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, roč. 32, č. 7, s. 775-779. ISSN 0334-018X. Dostupné z: https://dx.doi.org/10.1515/jpem-2019-0107. |
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@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 a 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, roč.~32, č.~7, s.~775-779. ISSN~0334-018X. Dostupné z: https://dx.doi.org/10.1515/jpem-2019-0107.
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