The benefit of rhGH therapy in a Chinese child with 12q14 microdeletion syndrome: a case report
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Yue Ping
Abstract
Objectives
The 12q14 microdeletion syndrome is a rare genetic condition characterized by intrauterine growth restriction, proportionate short stature, failure to thrive, and intellectual disability. Few reports have discussed the therapeutic aspect of patients with 12q14 microdeletion syndrome. Herein, we report the first case of 12q14 microdeletion patient treated with rhGH without growth hormone deficiency.
Case presentation
The patient presented with feeding difficulties during infancy, failure to thrive, intellectual disability and subtle dysmorphic facial features. The patient first visited the clinic at 5 years and 3 months, his height was 91.4 cm (−4.9 SD) and weight 10.0 kg (−2.86 SD). The growth hormone level was within the normal range. Bone radiological testing revealed no significant abnormalities. Genetic analysis identified a 6.97 Mb deletion at the chromosome 12q14.1–q14.3 region in the proband. Recombinant human growth hormone therapy was initiated, which lasted for 12 months, and the new height was 101.0 cm (−4.0 SD) and weight 12.0 kg (−3.6 SD).
Conclusions
This report first showed that patient with 12q14 microdeletion, although without growth hormone deficiency, can benefit from human growth hormone therapy.
Acknowledgments
We sincerely thank the patients who participated in this study.
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Research funding: This project was supported by the National Natural Science Foundation of China (NSFC, 81860280).
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Author contributions: HZ conceived of the study. YP and LLY contributed to the analysis, synthesis and wrote the manuscript. YC, YHG contributed to the data collection, YC, YPS, and HZ contributed to revised the manuscript. All authors contributed to the preparation of the manuscript.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The study was approved by the Ethics Committee of the Guizhou provincial people’s hospital.
References
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Supplementary Material
This article contains supplementary material (https://doi.org/10.1515/jpem-2023-0060).
© 2023 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Original Articles
- Metabolic risk factors in prepubertal and pubertal patients with overweight and obesity
- Blood pressure in girls with central precocious puberty receiving GnRH analogue therapy
- Norethindrone dosing for adequate menstrual suppression in adolescents
- Apparent diffusion coefficient (ADC) measurements and morphometric evaluation of the cranium in age-matched children with central precocious puberty
- Characteristics of vitamin D deficiency hypocalcemia inpatient admissions at a single tertiary center
- Early pregnancy exposure of maternal triglyceride levels and its effects on birth weight
- Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan
- Congenital hypothyroidism in Bogotá, Colombia: a current description (2015–2021)
- Case Reports
- Case report: mitochondrial diabetes mellitus in a Chinese family due to m.3243A>G
- Novel pathogenic variant of DICER1 in an adolescent with multinodular goiter, ovarian Sertoli–Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation
- Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees
- A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency
- The benefit of rhGH therapy in a Chinese child with 12q14 microdeletion syndrome: a case report
- Adjustment of octreotide dose given via insulin pump based on continuous glucose monitoring (CGM) in a child with congenital hyperinsulinism
