Clinical Analysis Of 3 Patients Of 3 Beta Hydroxysteroid Dehydrogenase Deficiency

Obiective: To explore the relationship and characteristics between clinical phenotype and gene mutation,by analyzing the gene molecular changes and clinical features of 3 patients with 3 beta hydroxysteroid dehydrogenase?3?-HSD?deficiency caused by HSD3B2 gene mutation.To explore the hormone replacement therapy for 3 beta hydroxysteroid dehydrogenase deficiency and the treatment of incomplete masculinization.Methods: Summarizing and analyzing the clinical data,assaying 17-hydoxyprogesterone?17-OHP?,adrenocorticotrophin?ACTH?,cortisol,testosterone?T?,dehydroepiandrosterone?DHEA?,androstendione,renin,aldosterone,adjusting medication and gene sequencing.Results: All 3 patients had abnormal development of external genitalia and adrenal insufficiency in infancy,and the changes of steroid hormone levels were consistent with 3 beta hydroxysteroid dehydrogenase deficiency.All the 3 patients were diagnosed with 3 beta hydroxysteroid dehydrogenase?3?-HSD?deficiency type II because of finding complex heterozygous mutations of HSD3B2 gene.Among all gene mutation types,c.154₁62delinsTCCTGTT and c.674T>A have not been reported at home and abroad.2 male patients with hypospadias and micropenis were performed hypospadias repair after enlarging the penis with intramuscular injection of long-acting testosterone,and the results of the operation were satisfactory.The female patient showed pigmentation of the skin and clitorism,which is mild androphany and does not require surgical treatment.Conlusion: The main clinical manifestations of 3?-hydroxysteroid dehydrogenase deficiency are adrenal insufficiency and sex hormone synthesis disorders.The diagnosis should be based on clinical manifestations,combined with steroid hormone levels and HSD3B2 gene results,and the genotype is consistent with the clinical phenotype.The new mutations c.154₁62delinsTCCTGTT and c.674T>A were considered as pathogenic mutations.Adrenocortical function control was satisfactory after hormone replacement therapy.For the best surgical effect,testosterone replacement therapy was used to enlarge the penis during puberty in male patients with hypospadias and small penis.