Response to growth hormone treatment in a patient with 18p-syndrome

Rogers, D. G.; Aswini, R.

doi:10.1515/jpem-2012-0100

Cited by 4 publications

(3 citation statements)

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“…Her linear growth was improved dramatically from -2.5 to -1.0 SD after 2 years and 3 months of GH therapy. This was consistent with a previous study that GH treatment had positive effects on 18p deletion patient [Rogers and Aswini, 2012]. Before GH treatment, the patient had a high TSH level and was diagnosed with hypothyroidism; hence, levothyroxine was administered.…”

Section: Discussionsupporting

confidence: 92%

Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome

Sun

Wan²,

Wang³

et al. 2018

Cytogenet Genome Res

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18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions. Her neuropsychological assessment test demonstrated delay in most cognitive functions including impaired mathematics, linguistic skills, visual motor perception, respond speed, and executive function. Meanwhile, her integrated visual and auditory continuous performance test (IVA-CPT) indicated a severe comprehensive attention deficit. At age 7 and 1/12 years, her height was 110.8 cm (-2.5 SD height for age). Growth hormone (GH) treatment was initiated. After 27 months treatment, her height was increased to 129.6 cm (-1.0 SD height for age) at 9 and 4/12 years, indicating an effective response to GH treatment.

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Section: Discussionsupporting

confidence: 92%

Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome

Sun

Wan²,

Wang³

et al. 2018

Cytogenet Genome Res

View full text Add to dashboard Cite

show abstract

“…The positive impact of GH therapy on linear growth in our patient is consistent with previous reports of 18p deletion syndrome [15,16]. Early diagnosis and hormone replacement therapy with levothyroxine, GH, and hydrocortisone for multiple hormone deficiencies may enable favorable growth and neurodevelopmental outcome.…”

Section: Discussionsupporting

confidence: 91%

A case of de novo 18p deletion syndrome with panhypopituitarism

Yang

Kim

Cho

et al. 2019

Ann Pediatr Endocrinol Metab

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Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round face). The phenotypic spectrum is wide, encompassing a range of abnormalities from minor congenital malformations to holoprosencephaly. We present a case of a 2-year-old girl with ptosis, a round face, broad neck with low posterior hairline, short stature, and panhypopituitarism. She underwent ventilation tube insertion for recurrent otitis media with effusion. Brain magnetic resonance imaging showed an ectopic posterior pituitary gland and a shallow, small sella turcica with poor visualization of the pituitary stalk. Cytogenetic and chromosomal microarray analysis revealed a de novo deletion on the short arm of chromosome 18 (arr 18p11.32p11.21[136,227–15,099,116]x1). She has been treated with recombinant human growth hormone (GH) therapy since the age of 6 months after diagnosis of GH deficiency. Her growth rate has improved without any side effects from the GH treatment. This case expands the phenotypic spectrum of 18p deletion syndrome and emphasizes the positive impact of GH therapy on linear growth in this syndrome characterized by growth deficiency. Further studies are required to define the genotype-phenotype correlation according to size and loci of the deletion in 18p deletion syndrome and to predict prognosis.

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“…In this study, GH treatment was effective and safe, which is consistent with previous reports. 23,24…”

Section: Discussionmentioning

confidence: 99%

Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib

2019

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Objective The aim of the study was to investigate the relationship between SLC37A4 gene mutation and clinical phenotype in a patient with glycogen storage disease-type I. Methods The clinical data of one patient with glycogen storage disease-type I accumulation syndrome and the results of SLC37A4 gene testing were analyzed. DNA from peripheral blood was used to analyze the SLC37A4 mutations of the patient and his parents. Results The patient carried a compound heterozygous mutation of SLC37A4, his mother was heterozygous for the c.572C > T (p.P191L) mutation, and his father was heterozygous for the c.359C > T (p.P120L) mutation. Conclusion The patient had two gene mutations: c.359C > T (p.P120L), which is closely related to glycogen storage disease-type I, and c.572C > T (p.P191L), which is a known mutation in the disease.

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Response to growth hormone treatment in a patient with 18p-syndrome

Cited by 4 publications

References 0 publications

Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome

Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome

A case of de novo 18p deletion syndrome with panhypopituitarism

Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib

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