.21 - Hydroxylase Deficiency, Clinical And Genetic Diagnosis

Congenital adrenal hyperplasia (CAH) refers to a group of steroidogenic disorders in which an enzyme defect results in impaired synthesis of cortisol. The defects are transmitted as autosomal recessive traits. 21-Hydroxylase deficiency (21-OHD) is the most frequent type of CAH, which accounts for over 90% of patients with CAH. 21-OHD is generally categorized into three forms, i.e. salt wasting (SW), simple virilizing (SV) and nonclassic (NC). Salt wasting and simple virilizing forms are also called classic 21-OHD. The worldwide incidence of classic 21-OHD uncovered by the newborn screening programs was estimated to be 1 in 14,554 live birth for homozygotes, with the corresponding heterozygote (carrier) to be 1 in 61 persons and gene frequency to be 0.0082. The nonclassic 21-OHD is one of the most common autosomal recessive disorders, with the frequency ethnic-specific.By far in China, neither much research has been reported, nor much is known about the incidence, clinical or genetic features of 21-OHD. The objective of this study was to summarize the clinical features of 21-OHD cases managed in our hospital, investigate its genetic features, establish the clinically and prenatally practicable genetic diagnosis, explore the relationship between phenotype and genotype, and uncover if nonclassic 21-OHD patients were misdiagnosed as idiopathic hirsutism.Cases from October 1964 to September 1993 were retrospectively studied. Some of them and new cases were prospectively studied from September 1993 to November 1997. Data included patients' sex,...