Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

Abstract

We present a patient with nonclassic congenital adrenal hyperplasia (NCAH) misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted. She had primary amenorrhea and was advised for karyotype at 16 years of age, which was reported as 45, X[20]/46, XX[80], stating her as a case of mosaic Turner syndrome. Clitoroplasty was done at 21 years of age for clitoromegaly, which was noticed during puberty. The diagnosis of mosaic Turner could not explain the virilization. Therefore, we repeated the karyotype, which revealed 46, XX in more than 100 metaphases and was sufficient to exclude mosaicism. Furthermore, the endocrinological evaluation revealed high testosterone level with a normal 17 alpha-hydroxyprogesterone (17-OHP). The presence of pubertal onset virilization with a karyotype of 46, XX and raised testosterone level with normal 17-OHP level, raised the suspicion of NCAH for which adrenocorticotropic hormone stimulation test was done which confirmed the diagnosis of NCAH.

Turner syndrome with positive SRY gene and non-classical congenital adrenal hyperplasia: A case report

“…The majority of previously reported cases with concomitant TS and CAH were diagnosed as TS. They had ambiguous genitalia or their NCAH was misdiagnosed as TS[ 9 , 16 - 26 ]. Although our patient was of short stature with no virilization signs and ambiguous genitalia, Larizza et al [ 21 ] reported that the frequencies of both abnormal 17-OHP response to ACTH stimulation test and CYP21 gene mutation carriers were prominently higher in patients with TS than in healthy controls.…”

“…Non-classical congenital adrenal hyperplasia (NCAH) is a common autosomal recessive disorder that manifests due to P450c21 (21-hydroxylase) deficiency. NCAH is caused by mutations in the CYP21A2 gene or microconversions between CYP21 pseudogenes and active genes[ 9 , 10 ]. The disorder is a mild form of congenital adrenal hyperplasia (CAH) and may result in infertility, miscarriages, oligomenorrhea, hirsutism, acne, advanced bone age, and clitoromegaly in females.…”