Santana HEE, Collazo MT, Tamayo CVJ, Motes VM, Betancourt LY

Language: Spanish
References: 13
Page: 830-839
PDF size: 133.84 Kb.

ABSTRACT

Introduction: congenital adrenal hyperplasia encompasses all inherited disorders of adrenal steroidogenesis cortisol, transmitted by autosomal recessive mutations. The enzyme 21-hydroxylase deficiency is the most frequent form of this disease, constituting 90 to 95% of cases.
Objective: To correlate the phenotypic characteristics with genotype in patients suffering from congenital adrenal hyperplasia diagnosed by neonatal screening in Holguin province, Cuba.
Material and method: a retrospective descriptive study was performed in 8 neonates with congenital adrenal hyperplasia per 21-hydroxylase deficiency, diagnosed by screening. They were asked for informed consent to perform physical examination and blood collection for the quantification of 17-hydroxyprogesterone and a molecular study that was performed at the Genetic National Center; mutations (P30L, Intron 2, 8 bp deletion and G318X) were sought.
Results: 62.5% of the patients presented clinical symptoms, the two patients who presented the classic salt loss form, which is the severe neonatal disorder, exhibit various mutations in the pseudogene and the active gene mutation Intron 2, where 50% of mothers were homozygous or heterozygous for these mutations.
Conclusions: the most frequent mutation found was Intron 2. Among the clinical features, macrogenitosomia prevailed and simple virilization. The correlation of phenotype-genotype was accomplished to the most affected.

REFERENCES

1. Kukreti P, Kandpal M, Jiloha RC. Mistaken gender identity in non-classical congenital adrenal hyperplasia. Indian J Psychiatry. 2014 Apr; 56(2): 182-4.

2. Kawano A, Kohno H, Miyako K. A Retrospective Analysis of the Growth Pattern in Patients with Salt-wasting 21-Hydroxylase Deficiency. Clin Pediatr Endocrinol. 2014 Apr; 23(2): 27-34.

3. Morikawa S, Nakamura A, Fujikura K, Fukushi M, Hotsubo T, Miyata J, Ishizu K, Tajima T. Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo. Clin Pediatr Endocrinol. 2014 Apr; 23(2): 35-43.

4. Delvecchio M, Soldano L, Lonero A, Ventura A, Giordano P, Cavallo L et al. Evaluation of impact of steroid replacement treatment on bone health in children with 21-hydroxylase deficiency. Endocrine. 2014 Jul 1; 48(3).

5. Joshi R, Das D, Tamhankar P, Shaikh S. Phenotypic variability in congenital lipoid adrenal hyperplasia. Indian Pediatr. 2014 May; 51(5): 399-400.

6. Al Hosani H, Salah M, Osman HM, Farag HM, El-Assiouty L, Saade D, et al. Expanding the comprehensive national neonatal screening programme in the United arab emirates from 1995 to 2011. East Mediterr Health J. 2014 Feb 11; 20(1): 17-23.

7. Almeida MQ, Kaupert LC, Brito LP, Lerario AM, Mariani BM, Ribeiro M et al. Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia. BMC Endocr Disord. 2014 May 12; 14: 42.

8. Gidlöf S, Wedell A, Guthenberg C, von Döbeln U, Nordenström A. Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study. JAMA Pediatr. 2014 Jun 1; 168(6): 567-74.

9. Yang Y, Zhou XY, Zhou XG. Clinical analysis of 52 cases of 21-hydroxylase-deficient congenital adrenal hyperplasia. Zhongguo Dang Dai Er Ke Za Zhi. 2015 Jun; 17(6): 613-7.

10. Odenwald B, Dörr HG, Bonfig W, Schmidt H, Fingerhut R, Wildner M, et al. Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria. Klin Padiatr. 2015 Jun 19; 227(05): 278- 283.

11. Falhammar H, Nordenström A. Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome. Endocrine. 2015 Sep; 50(1): 32-50.

12. Turcu AF, Auchus RJ. Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia. Endocrinol Metab Clin North Am. 2015 Jun; 44(2): 275-296.

13. Larrandaburu M, Matte U, Noble A, Olivera Z, Sanseverino MT, Nacul L, et al. Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm. J Community Genet. 2015; 6: 241.