17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene
-
Melikşah Keskin
,
Aylin Kılınç Uğurlu
Abstract
17α-Hydroxylase/17-20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. Genetic defects causing combined 17OHD lead to the impaired production of cortisol and sex steroids, accumulation of mineralocorticoids, and compensatory overproduction of pituitary adrenocorticotropic hormone. Consequently, individuals with this enzymatic defect present with both adrenal cortical hyperplasia and variable degrees of hypertension, hypokalemia, and sexual immaturity. The patient was aged 15 years and 3 months and she was diagnosed with 17OHD while she was being evaluated for complaints of delayed puberty. In the present case, p.Y27*(c.81C>A) mutation was revealed in the sequence analysis of the CYP17A1 gene. The same mutation was reported in a 20-year-old Turkish girl in Germany, who was investigated for delayed puberty in 2005. The previous case was reported to be normotensive and normokalemic. The presence and differences in the severity of hypertension in cases with the same mutation and total enzymatic deficiency may indicate that genes predisposed to hypertension, obesity due to genetic and environmental factors, and some other factors may play a role in the clinical presentation of hypertension.
References
1. Shi M, Chen X, Zhou Q, Shen F. Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency. Gynecol Endocrinol 2014;16:1–4. [Epub ahead of print].10.3109/09513590.2014.943721Search in Google Scholar
2. Mussig K, Kaltenbach S, Machicao F, Maser-Gluth C, Hartmann MF, et al. 17alpha-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene. J. Clin Endocrinol Metab 2005;90:4362–5.Search in Google Scholar
3. Peter M, Sippell WG, Wernze H. Diagnosis and treatment of 17-hydroxylase deficiency. J Steroid Biochem Molec Bio 1993;45:107–16.10.1016/0960-0760(93)90129-KSearch in Google Scholar
4. Miller WL, Acherman JC, Flück CE. The adrenal cortex and its disorders. In: Sperling MA, editor. Pediatric endocrinology. Philadelphia: Saunders Elsevier Inc., 2008;444–511.Search in Google Scholar
5. Costa-Santos M, Kater CE, Auchus RJ, Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab 2004;89:49–60.10.1210/jc.2003-031021Search in Google Scholar PubMed
6. Wang YP, Zhao YJ, Zhou GY, He B. CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency. Gynecol Endocrinol 2014;30:456–60.10.3109/09513590.2014.895980Search in Google Scholar PubMed
7. Rosa S, Duff C, Meyer M, Lang-Muritano M, Balercia G, et al. P450c17 deficiency: clinical and molecular characterization of six patients. J Clin Endocrinol Metab 2007;92:1000–7.10.1210/jc.2006-1486Search in Google Scholar PubMed
8. Qiao J, Han B, Liu BL, Liu W, Wu JJ, et al. A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17{alpha}-hydroxylase deficiency. Eur J Endocrinol 2011;164:627–33.10.1530/EJE-10-0933Search in Google Scholar PubMed
9. Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, et al. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet 2005;76:729–49.10.1086/429417Search in Google Scholar PubMed PubMed Central
10. Bao X, Ding H, Xu Y, Cui G, He Y, et al. Prevalence of common mutations in the CYP17A1 gene in Chinese Han population. Clinica Chimica Acta 2011;412:1240–3.10.1016/j.cca.2011.03.019Search in Google Scholar PubMed
©2015 by De Gruyter
Articles in the same Issue
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Articles in the same Issue
- Frontmatter
- Highlight: Thyroid
- Thyroid disorders revisited
- Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands
- Prognostic factors in pediatric differentiated thyroid cancer patients with pulmonary metastases
- Reclassification of cytologically atypical thyroid nodules based on radiologic features in pediatric patients
- Evaluation of inflammatory and oxidative biomarkers in children with well-controlled congenital hypothyroidism
- Investigation of autoimmune diseases accompanying Hashimoto’s thyroiditis in children and adolescents and evaluation of cardiac signs
- Neonatal thyroid storm accompanied with severe anaemia
- Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion
- Subclinical hypothyroidism as a rare cofactor in chronic kidney disease (CKD) – related anemia
- Cytometric analysis of perforin expression in NK cells, CD8+, and CD4+ lymphocytes in children with autoimmune Hashimoto’s thyroiditis – a preliminary study
- Papillary thyroid cancer and autoimmune polyglandular syndrome
- Review article
- Should radioiodine be the first-line treatment for paediatric Graves’ disease?
- Image in pediatric endrocrinology
- Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease
- Original articles
- Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
- Rickets and vitamin D deficiency in Alaska native children
- Persistent elevation of fibroblast growth factor 23 concentrations in healthy appropriate-for-gestational-age preterm infants
- Parents’ experiences of having a baby with ambiguous genitalia
- Effect of GnRHa 3.75 mg subcutaneously every 6 weeks on adult height in girls with idiopathic central precocious puberty
- Congenital adrenal hyperplasia in children – a survey on the current practice in the UK
- Randomized clinical trial evaluating metformin versus oral contraceptive pills in the treatment of adolescents with polycystic ovarian syndrome
- Influence of the body weight on the onset and progression of puberty in boys
- Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
- Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene
- Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds
- Monitoring gonadotropin-releasing hormone analogue (GnRHa) treatment in girls with central precocious puberty: a comparison of four methods
- Dietary intake, body composition, and physical activity among young patients with type 1 diabetes mellitus
- Metabolic syndrome in obese children and adolescents in Serbia: prevalence and risk factors
- Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy
- Patient reports
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- A patient developing anaphylaxis and sensitivity to two different GnRH analogues and a review of literature
- Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
- Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty
- Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency
- Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review
- Successful use of continuous subcutaneous hydrocortisone infusion after bilateral adrenalectomy secondary to bilateral pheochromocytoma
- Donohue syndrome: a new case with a new complication
- Euprolactinemic galactorrhea secondary to domperidone treatment
- 17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate
- Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency
- Short communication
- Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1
