Abstract
Background18q- syndrome is a rare chromosomal disease caused by the deletion of the long arm of chromosome 18. Some cases with 18q- syndrome can be combined with growth hormone deficiency (GHD), but data on the efficacy of recombinant human growth hormone (rhGH) treatment in 18q- syndrome are limited.MethodsHere, we report one case of 18q- syndrome successfully treated with long-term rhGH supplement. Previously reported cases in the literature are also reviewed to investigate the karyotype–phenotype relationship and their therapeutic response to rhGH.ResultsA 7.9-year-old girl was referred for evaluation for short stature. Physical exam revealed proportionally short stature with a height of 111.10 cm (−3.02 SD score (SDS)), low-set ears, a high-arched palate, a small jaw, webbed neck, widely spaced nipples, long and tapering fingers, and cubitus valgus. Thyroid function test indicated subclinical hypothyroidism. The peak value of growth hormone was 10.26 ng/ml in the levodopa provocation test. Insulin-like growth factor 1 (IGF-1) was 126 ng/ml (57–316 ng/ml). Other laboratory investigations, including complete blood cell count, liver and kidney function, gonadal function, serum adrenocorticotropin levels, and serum cortisol levels, were all within normal ranges. Karyotype analysis showed 46, XX, del (18) (q21). L-Thyroxine replacement and rhGH treatment were initiated and maintained in the following 7 years. At the age of 14.8, her height has reached 159.5 cm with a height SDS increase of 2.82 SDS (from −3.02 SDS to −0.20 SDS). No significant side effects were found during the treatment. The literature review indicated the average rhGH treatment duration of 16 patients was 5.9 ± 3.3 years, and the average height SDS significantly increased from −3.12 ± 0.94 SDS to −1.38 ± 1.29 SDS after the rhGH treatment (p < 0.0001).ConclusionThe main clinical manifestations of 18q- syndrome include characteristic appearance, intellectual disability, and abnormal genital development. The literature review suggested a significant height benefit for short stature with 18q- syndrome from long-term rhGH treatment.
Highlights
Chromosome 18q- syndrome (OMIM# 601808) is a rare chromosomal disease, which was first reported by De Grouchy in 1964, and more than 100 cases had been reported to date [1]
A 7.9-year-old girl was referred to our clinic for evaluation of short stature
We reported one case of 18q- syndrome successfully treated with long-term rhGH supplement
Summary
Chromosome 18q- syndrome (OMIM# 601808) is a rare chromosomal disease, which was first reported by De Grouchy in 1964, and more than 100 cases had been reported to date [1]. The most common cause of the syndrome is the deletion of the terminal of the long arm of chromosome 18 [3]. The clinical phenotypes of 18q- syndrome are highly variable due to heterogeneity with variable size and genetic content and imbalances from structurally abnormal chromosomes. Reported phenotypic features of 18q- syndrome are as follows: 1) physical deformities including mid-face dysplasia, ear canal deformity, hand or foot abnormalities, and genital dysplasia; 2) psychoneurological abnormalities including intellectual disability, hypotonia, language and motor development delay, and hearing impairment; 3) and short stature with or without growth hormone deficiency (GHD) [4]. Short stature is a common and important issue in patients with 18q- syndrome, and concurrence of GHD had been reported in some of these patients [5,6,7]. Information about the efficacy of recombinant human growth hormone (rhGH) treatment in patients with 18q- syndrome is limited
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