OBJECTIVES: The objective was to seek evidence on the prevalence and consequences of heterozygous @entity4414 mutations in @entity1 , adolescent, and adult females with clinical manifestation of @entity342 excess. @entity1 AND METHODS: The study included 64 @entity1 diagnosed with @entity3465 ( @entity3465 ) in childhood and 141 females with clinical @entity3610 manifested in adolescence or adulthood. Direct DNA sequencing and multiplex ligation-dependent probe amplification analysis were used to identify mutations in the @entity4414 gene. RESULTS: (1) Thirty-four @entity1 were diagnosed with @entity774 ( @entity774 ) based on the @entity4418 (17-OHP) levels and the presence of two mutations in @entity4414 and therefore were excluded from the study, 66 were found to be heterozygotes and finally 105 had no identifiable mutations. The most frequent mutations among the carriers were the mild @entity12555 and @entity68692 . Higher levels of mean stimulated 17-OHP were found in the carriers of the @entity12555 . (2) A notable increased allelic frequency for the known @entity68693 polymorphism was observed in the pool of females with @entity3610 in whom no mutation was identified. (3) In @entity1 , who presented early with @entity3465 , 26.6% were diagnosed with @entity774 and carried two mutations, 28.7% were identified as heterozygotes 43.7% had no identifiable @entity74 in the translated region of the @entity4414 gene. On the contrary, in the group of 141 females with late onset @entity3610 , the presence of 2 mutations was detected in 12%, 1 mutation in 33.4% and no mutation in 54.6%. CONCLUSIONS: The carrier status for 21- @entity11627 , may be an important factor in the variable phenotype of @entity3428 and may be a contributing factor for the early manifestation of the disease.

Phenotypic variability of @entity3610 in females heterozygous for XXXX mutations.

@entity1 :: ('9606', 'Species') :: ['patients', 'PATIENTS', 'girls'] @entity4414 :: ('1589', 'Gene') :: ['CYP21A2'] @entity3610 :: ('MESH:D011085', 'Disease') :: ['hyperandrogenemia'] @entity68692 :: ('p|SUB|QLN|318|X', 'ProteinMutation') :: ['p.Qln318stop'] @entity11627 :: ('MESH:C536209', 'Disease') :: ['OHD'] @entity3465 :: ('MESH:C536271', 'Disease') :: ['PA', 'premature adrenarche'] @entity3428 :: ('MESH:D017588', 'Disease') :: ['hyperandrogenism'] @entity4418 :: ('MESH:D019326', 'Chemical') :: ['17-hydroxyprogesterone'] @entity342 :: ('CHEBI:50113', 'Chemical') :: ['androgen'] @entity12555 :: ('p|SUB|V|281|L', 'ProteinMutation') :: ['p.Val281 Leu'] @entity68693 :: ('p|SUB|N|493|S', 'ProteinMutation') :: ['p.Asn493 Ser'] @entity74 :: ('MESH:D030342', 'Disease') :: ['genetic defect'] @entity774 :: ('MESH:D000312', 'Disease') :: ['nonclassical-congenital adrenal hyperplasia', 'NC-CAH']
@entity4414 :: (1589,Gene) :: ['CYP21A2']
