17β-hydroxysteroid dehydrogenase 10 deficiency: a case report and literature review / 中国新生儿科杂志

ABSTRACT

Objective:To study the clinical and genetic characteristics of 17β-hydroxysteroid dehydrogenase 10 (HSD17B10) deficiency.Methods:The clinical data of a male patient with HSD17B10 deficiency diagnosed and treated in the neonatal department of our hospital were analyzed. Literatures were searched in the CNKI, VIP Database, WanFang Database PubMed and Embase using "17β-hydroxysteroid dehydrogenase", "17β-HSD", "17β-hydroxyl Steroid dehydrogenase 10", "HSD17B10", "2-methyl 3-hydroxybutyryl-CoA dehydrogenase", "2-methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency", "MHBD", "MHBDD" as keywords. The reported data of patients with HSD17B10 deficiency were reviewed and the clinical and genetic characteristics analyzed.Results:The male newborn admitted to our hospital had poor response as the presenting symptom, accompanied with severe metabolic acidosis, myocardial injury and hyperammonemia. He was dead after giving up treatment. Genetic tests indicated mutations occur in HSD17B10 gene exon6. c.740A>G (P.N247S). A total of 41 cases (our case included) with 16 different types of gene mutations from 38 papers were analyzed. Most of the patients ( n=38, 92.7%) were male and the disease was more severe in male patients. Most patients had neurological abnormalities ( n=37, 90.2%) with comorbidities including metabolic acidosis ( n=13, 31.7%), hypoglycemia ( n=8, 19.5%), retinopathy ( n=7, 17.1%), cardiomyopathy ( n=6, 14.6%) and nystagmus ( n=4, 9.8%). Severe metabolic acidosis was the main presentation of the neonatal-onset of the disease. The younger the age of onset, the higher the mortality and the worse the prognosis. HSD17B10 gene mutation analysis could confirm the diagnosis. Conclusions:HSD17B10 deficiency gene mutations have multiple types. Male patients tend to have severe clinical courses and poor prognosis. No effective treatments exist to date. Family history of the disease strongly suggests early prenatal consultation and prenatal diagnosis.