A case with 21-hydroxylase deficiency combined with adrenal adenoma and testicular adrenal rest tumors / 中华内分泌代谢杂志

Objective To investigate the clinical and genetic characteristics in a male patient with 21hydroxylase deficiency combined with adrenal and testicular tumors.Methods Clinical features and laboratory data were collected from the patient.Testicular biopsy was performed.The CYP21 gene was sequenced for mutations.Results The patient presented left adrenal and testicular enlargements.The laboratory examinations showed that plasma ACTH,androstenedione,testosterone,progesterone,and 17-hydroxyprogesterone were markedly elevated.CT scan revealed that the right adrenal gland being resected and the left adrenal with nodular enlargement.Furthermore,testicular biopsy showed a prominent peritubular fibrosis with increased number of peritubular fibroblasts,tubular hyalinisation,and calcification.Sequencing analysis showed a A>G homozygous mutation at intron 2.Conclusion Patients with untreated 21-hydroxylage deficiency may.have adrenal adenomas and(or)testicular adrenal rest tumor simultaneously.

Some mutations in CYP21 gene causing congenital adrenal hyperplasia due to 21-hydroxylase deficiency, the relationship between genotype phenotype and the carriers in family

Background: Impaired synthesis of adrenal hormones because of steroid 21 - hydroxylase deficiency is one of the common inborn errors of metabolism. The disease is caused by mutations in CYP21 gene and inherited as an autosomal recessive trait.Objectives: This study aims to detect some mutations in CYP21 gene as well as study the relationship between genotype - phenotype and the carriers in patients' family. Subjects and method:43 patients with classic 21 - hydroxylase deficiency and 10 patients' parents were analysed CYP21 gene by using PCR techniques with specific primer pairs. The data was collected and analysed by EpiInfo 6.04 and other common medical statistic method. Results:Among 43 children patients of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, the rate between male and female was equavalent. The most frequent mutation causing steroid 21 - hydroxylase deficiency was deletion 8bp of exon 3. Then, was splicing site mutation of intron 2. The mutation of exon 1 (Pr030Leu) was also detected. About genotype - phenotype relationship, nearly all deletions 8bp (80%) and 12 splicing mutations (87.5%) were associated with salt - wasting phenotype. Conclusion: Parents were the carriers corresponding to the autosomal recessive rule.

Genetic Analysis in a Case of Transient Neonatal Diabetes Mellitus with Congenital Adrenal Hyperplasia / 대한소아내분비학회지

A case of transient neonatal diabetes mellitus combined with congenital adrenal hyperplasia(CAH) is described. A female infant was born by cesarean delivery due to fetal distress, she had sunken eyeball and anterior fontanelle, large protruded tongue and thin subcutaneous tissues. She had large clitoris and progressive pigmentation on whole body was observed since 10th day of birth. Hyperglycemia and glycosuria was noted at 3rd day of birth. Level of insulin and C-peptide was 3.0 mU/L and 0.35 ng/mL respectively. Serum ACTH was 870.4 pg/mL and 17-hydroxyprogesterone was increased to 20,000 ng/dL. Serum Na was 124 mEq/L, K 5.6 mEq/L. Abdominal MRI showed no abnormality. Chromosomal study showed 46,XX. Genetic analysis with polymorphic DNA markers for chromosome 6 showed paternal uniparental isodisomy at D6S276, D6S1704 and DNA analysis of CYP 21 gene showed mutation at P435S. She required insulin therapy for 8 months after birth. Hydrocortisone and florinef was needed for the control of CAH.

A novel heterozygous complex mutation of CYP21 gene may cause non-classical 21-hydroxylase deficiency / 中华内分泌代谢杂志

Objective To investigate the clinical and genetic characteristics of a case with non-classical 21-hydroxylase deficiency(210HD).Methods Clinical features and laboratory data were obtained from a patient with non-c]assical 21OHD,and the promoter and coding areas of CYP21 gene were sequenced.Results The old female patient presented with hypertension.The laboratory examinations showed that plasma androstenedione, testosterone,progesterone and 17-hydroxy progesterone(17OHP)were increased.CT scan revealed bilateral adrenal nodular enlargement.Furthermore,rapid ACTH stimulation test showed that the plasma 17OHP concentration was further increased up to 68.3?g/L.Sequencing analysis showed a C1187T(R356W) substitution at exon 8 and the C-125T,G-112A,T-109C variations in the promoter of CYP21 gene,which was not previous reported.Conclusion The combined heterozygous mutations,Cl187T at exon 8 and C-125T,G -112A,T-109C in promoter,seem to be associated with non-classical 21OHD phenotype.

Three Cases of Congenital Adrenal Hyperplasia Owing to Multiple Mutations of CYP21 Gene / 대한소아내분비학회지

Congenital adrenal hyperplasia(CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. We have analyzed CYP21 genes of CAH by PCR direct sequencing. Our results shows three cases of CAH owing to multiple mutations of CYP21 gene; first case, IVS2AS, A/G, -13, Ile172Asn; second case, IVS2AS, A/G, -13, Ile236Asn, Val237Glu, Met239Lys; third case, Ile172Asn, C to G at 1590nt, Val281Leu, Arg484Pro, G to A at 2697nt. Mutations such as Ile236Asn, Val237Glu, Met239Lys, and Arg484Pro are first noted in Korea.

Molecular Characterisation Of Mutations In Congenital Adrenal Hyperplasia In Indian Subjects.

Congenital adrenal hyperplasia (CAH) is one of the most common outosomal recessive condition causing ambiguous genitalia in females. Often, it's a life threatening condition occurring with 1 in 5000 to 15000 live births and caused due to mutations in CYP21 gene encoding the enzyme 21-hydroxylase. 25 cases of CAH reporting at All India Institute of Medical Sciences, New Delhi, were analysed for mutations in the gene CYP21 and the results are discussed.