Successful pregnancy after the treatment of primary amenorrhea in a patient with non-classical congenital adrenal hyperplasia

Complete analysis of the CYP21 gene was performed in 56 unrelated French women with symptomatic nonclassical congenital adrenal hyperplasia. The mutational spectrum and the phenotype-genotype correlation were examined. The overall predominant mutation was V281L, which was present on 51% of alleles and in 80% of women. Three novel mutations were found: L317M, R435C, and a 5′-end gene conversion. Sixty-three percent of the women were carrying a severe mutation of the CYP21 gene, and hence risk giving birth to children with a classical form of the disease. In such cases, screening for heterozygosity in the partner is crucial. Potential genotype/phenotype correlations were examined by classifying the patients into three groups according to the CYP21 allelic combinations: A (mild/mild), B (mild/severe), and C (severe/severe). Primary amenorrhea was more frequent, and mean basal and stimulated 17-hydroxyprogesterone levels were higher in compound heterozygotes for mild and severe mutations (group B) compared with women with two mild mutations (group A), but there was a considerable overlap for individual values. Surprisingly, in two women, a severe mutation was found on both alleles (group C). Therefore, the phenotype cannot be accurately predicted from the genotype. Variability in phenotypic expression may be conditioned by mechanisms other than genetic heterogeneity at the CYP21 locus.

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A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report

International Journal of Reproductive BioMedicine ◽

10.18502/ijrm.v17i6.4817 ◽

2019 ◽

Author(s):

Majid Nazari ◽

Mohammad Yahya Vahidi Mehrjardi ◽

Nosrat Neghab ◽

Mahdi Aghabagheri ◽

Nasrin Ghasemi

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Autosomal Recessive ◽

Clinical Symptoms ◽

Novel Mutation ◽

Autosomal Recessive Disorder ◽

Homozygous Deletion ◽

Blood Levels ◽

Primary Amenorrhea ◽

Adrenal Hyperplasia ◽

Lyase Deficiency

Background: Congenital adrenal hyperplasia is a rare autosomal recessive disorder where the mutation in P450 family 17 subfamily A member 1 gene (CYP17A1) is involved in its etiology. The disorder represents itself with low blood levels of estrogens, androgens, and cortisol that generally couples with hypertension, Hypokalemia, sexual primary amenorrhea, infantilism and in affected individuals. Case: In this study, the CYP17A1 gene in a 14-year-old female was examined. The karyotype of the patient was 46, XX, and the analysis of the CYP17A1 gene by Sanger sequencing revealed a novel homozygous deletion c.1052-1054CCT which led to isolated 17,20-lyase deficiency. Conclusion: In conclusion, this study report an in-frame deletion which results in isolated 17, 20-lyase deficiency, and the mutation might be used for diagnosis in other patients with distinctive clinical symptoms.

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A case report of young hypertensive with primary amenorrhea: uncommon variant of congenital adrenal hyperplasia

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20150769 ◽

2015 ◽

pp. 1642-1644

Author(s):

Divendu Bhushan ◽

Mukta Agarwal

Keyword(s):

Case Report ◽

Congenital Adrenal Hyperplasia ◽

Primary Amenorrhea ◽

Adrenal Hyperplasia

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Successful pregnancy and delivery of a patient with congenital adrenal hyperplasia

Obstetrics & Gynecology Science ◽

10.5468/ogs.2016.59.1.50 ◽

2016 ◽

Vol 59 (1) ◽

pp. 50

Author(s):

Da Hyun Mun ◽

Ha Na Yun ◽

Jong Woon Kim ◽

Yoon Ha Kim ◽

Tae-Bok Song

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Adrenal Hyperplasia ◽

Successful Pregnancy ◽

Pregnancy And Delivery

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Simultaneous measurement of eight corticosteroids by liquid chromatography, and application of the procedure to diagnosis of congenital adrenal hyperplasia.

Clinical Chemistry ◽

10.1093/clinchem/33.8.1354 ◽

1987 ◽

Vol 33 (8) ◽

pp. 1354-1359 ◽

Cited By ~ 9

Author(s):

J Q Wei ◽

X T Zhou ◽

J I Wei

Keyword(s):

Liquid Chromatography ◽

Congenital Adrenal Hyperplasia ◽

Mobile Phase ◽

Primary Amenorrhea ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Steroid Profiles ◽

Chromatographic Procedure ◽

17 Hydroxyprogesterone ◽

Liquid Chromatographic

Abstract We describe a liquid-chromatographic procedure for simultaneously determining eight steroids in serum. We used a Zorbax ODS column and a mobile phase of methanol/isopropanol/water (44/10/46, by vol), which well resolves the steroids cortisone, cortisol, corticosterone, 11-deoxycortisol, 11-deoxycorticosterone, androstenedione, 17-hydroxyprogesterone, and progesterone, but not 11-deoxycorticosterone and androstenedione. Analytical recoveries of the steroids ranged from 89.27% to 99.58%. CVs were less than 10%. Prednisone and dexamethasone do not interfere. Using this method, we studied the serum steroid profiles of six patients with congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase or 17-hydroxylase. Not only could we make a clearcut diagnosis and distinguish the subtle types of CAH, but also we could investigate clinical and biochemical variants of CAH. For example, we confirmed 17-hydroxylase deficiency in a patient who was normotensive with primary amenorrhea and streak gonads.

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