The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 – case report
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Mirela E. Iancu
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Dragoș N. Albu
Abstract
Objectives
The aetiology of short stature in cutis laxa (CL) syndromes is largely unknown. Herein, we report a case with autosomal dominant CL type 3 (ADCL3) with severe short stature and growth hormone (GH) deficiency.
Case presentation
A male patient with a genetically confirmed diagnosis of ADCL3 was referred for endocrinological evaluation of short stature at the age of 3.4 years. The examination revealed severe proportional short stature (−4.14 standard deviations (SD) score for height) in a patient born small for gestational age (birth weight 2080 g, −2.46 SD, birth length 41 cm, −4.22 SD). Assessment of GH reserve with two clonidine stimulation tests (0.15 mg/m2) with peak GH values of 8.07 ng/mL and 2.98 ng/mL, respectively, were indicative of GH deficiency. Also, the MRI examination revealed a small size pituitary. Thus, the treatment with somatropin was started. The height deficit significantly improved (from −4.14 SD to −1.48 SD) without side effects during the follow-up of 4.5 years.
Conclusions
With this report, the GH deficiency as a possible cause of short stature in ADCL3 and the response to somatropin administration were reported for the first time in the literature.
Acknowledgments
We are grateful to all of the staff involved in the medical care of the patient.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Author DNA has received travel grants from Merck, Merck Sharp and Dohme and Ferring Parmaceuticals. Author AIA has received travel grants from Ferring Pharmaceuticals, Pfizer, speaker honorarium from Sandoz Pharma Services and lectures honorarium from Merck.
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Informed consent: Informed consent for the publication, medical evaluation and treatment was obtained from the patient’s parents.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
References
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Artikel in diesem Heft
- Frontmatter
- Review Article
- Effects and dose-response relationships of exercise intervention on weight loss in overweight and obese children: a meta-regression and system review
- Original Articles
- Diabetic ketoacidosis in children with new-onset type 1 diabetes mellitus: demographics, risk factors and outcome: an 11 year review in Hong Kong
- Incidence tendency, etiological classification and outcome of congenital hypothyroidism in Guangzhou, China: an 11-year retrospective population-based study
- Metabolically healthy obesity in a paediatric obesity clinic
- Universal salt iodization potentially contributes to health equity: socio-economic status of children does not affect iodine status
- Association between clinical variations and copy number variations in cases with Turner syndrome
- The mediating function of obesity on endocrine-disrupting chemicals and insulin resistance in children
- Relationship between prolactin level and puberty in girls with early breast development
- Pattern of presentation of paediatric endocrine disorders in a Nigerian tertiary institution: an 11-year survey
- Case Reports
- Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita
- Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy
- Craniosynostosis in a patient with Fanconi–Bickel syndrome: a case report
- Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up
- The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 – case report
- Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family
