Case Report: Clinical phenotypes and recombinant human growth hormone therapeutic exploration for a patient with Takenouchi-Kosaki syndrome harboring the CDC42 p.Arg68Gln variant.
This case report suggests that recombinant human growth hormone may support catch-up growth in a patient with Takenouchi-Kosaki syndrome, but further research is needed to confirm its efficacy and safety.
Where it sits
this study against the rest of the hgh (somatropin) corpusSummary and findings
This case report details a pediatric patient with the CDC42 p.Arg68Gln variant and manifestations of Takenouchi-Kosaki syndrome. Off-label recombinant human growth hormone therapy was administered for her short stature. Favorable catch-up growth was observed during six months of follow-up.
Abstract
This study reports a pediatric patient harboring the heterozygous CDC42 variant (c. 203G > A, p. Arg68Gln), an ultra-rare variant with limited clinical and genetic data worldwide. She presented with typical Takenouchi-Kosaki syndrome (TKS) manifestations, including severe growth retardation, characteristic craniofacial dysmorphism, persistent macrothrombocytopenia and progressive sensorineural hearing loss. Additional evaluations identified leukopenia, hypogammaglobulinemia and a humoral immunodeficiency. Compound heterozygous GJB2 variants were detected but unlikely to dominate the patient's profound hearing loss. Off-label recombinant human growth hormone (rhGH) therapy was administered for her short stature. During six months of follow-up, favorable catch-up growth was achieved. Literature review was conducted to clarify features of this variant. This study supplements the clinical data of the CDC42 p. Arg68Gln variant, provides preliminary evidence for rhGH intervention, and offers reference information for the clinical management and genetic counseling of patients with TKS.
Background
This paper addresses the clinical features and potential therapeutic interventions for a pediatric patient with Takenouchi-Kosaki syndrome, a condition associated with the CDC42 p.Arg68Gln variant. Prior knowledge about this ultra-rare variant is limited, and the clinical implications of rhGH therapy in such cases are not well established. This study is significant as it attempts to fill gaps in the understanding of the syndrome and explore treatment options.
Methods
This is a case report involving a pediatric patient with a heterozygous CDC42 variant. The patient received off-label recombinant human growth hormone therapy for short stature. The duration of follow-up was six months, focusing on growth outcomes.
Results
Favorable catch-up growth was achieved during six months of follow-up. Specific numeric growth data were not reported in the abstract.
Interpretation
The findings suggest a potential benefit of rhGH therapy in this unique case, but the evidence is limited to a single patient. The effect size and clinical significance remain unclear due to the lack of comparative data and the small sample size. The presence of multiple health issues complicates the interpretation of the results and raises concerns about the generalizability of the findings.
Key findings
- Favorable catch-up growth achieved during six months of follow-up.
- Patient presented with severe growth retardation, characteristic craniofacial dysmorphism, persistent macrothrombocytopenia, and progressive sensorineural hearing loss.
- Additional evaluations identified leukopenia, hypogammaglobulinemia, and a humoral immunodeficiency.
- Compound heterozygous GJB2 variants detected but unlikely to dominate the patient's profound hearing loss.
Limitations
- Single case report limits generalizability.
- Off-label use of rhGH raises safety concerns.
- No comparative data provided.
- Short follow-up period may not capture long-term outcomes.