Levels of 17-Hydroxyprogesterone, Renin, Testosterone, And Electrolytes in Congenital Adrenal Hyperplasia Patients
DOI:
https://doi.org/10.47489/szmc.v38i3.516Keywords:
Congenital adrenal hyperplasia, 17-hydroxyprogesterone, plasma direct renin, testosterone, serum electrolytesAbstract
Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal-recessive condition primarily caused by 21- hydroxylase deficiency. It is the most common cause of ambiguous genitalia in infants and children. It can be a fatal condition if left untreated.
Objectives: The study's objective was to estimate the levels of 17-hydroxyprogesterone, plasma direct renin, testosterone, and electrolytes in patients with CAH.
Place and Duration of Study: This cross-sectional study was conducted at the University of Child Health Sciences, Lahore between March 2021 till April 2022.
Material & Methods: This study included ninety CAH patients up to 14 years of age who underwent clinical and physical testing without gender restriction. Patients without confirmed CAH but with elevated levels of 17- hydroxyprogesterone were excluded. An ultrasound examination was done to confirm the presence of ambiguous genitalia. ELISA was used to estimate the values of 17-hydroxyprogesterone. Plasma direct renin and testosterone were measured by chemiluminescence immunoassay. The values of sodium, potassium and chloride were measured using an electrolyte analyzer. Data was analyzed using IBM SPSS version 26.0.
Results: Of the total 90 patients, 46 (51.11%) were boys and 44 (48.88%) were girls. 55 (61.10%) CAH patients had high levels of 17-OHP. High testosterone and plasma direct renin levels were observed in 31 (34.40%), and 43 (47.80%) CAH patients respectively. Mostly, CAH patients had normal levels of sodium 70 (77.80%), potassium 54 (60.0%), and chloride 57 (63.30%). The difference in 17-OHP (ng/mL) levels was found to be statistically significant (p=0.002) in both genders.
Conclusion: There is a significant association between elevated 17-OHP and CAH in the pediatric population, indicating that the 17-OHP can be used as a diagnostic tool for CAH patients.
References
Carvalho B, Marques CJ, Santos-Silva R, Fontoura M, Carvalho D, Carvalho F. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update on genetic analysis of CYP21A2 gene. Experimental and Clinical Endocrinology & Diabetes. 2021;129(07):477-81. DOI: 10.1055/a- 1108-1419
Kelestimur F, Unluhizarci K. Congenital Adrenal Hyperplasia (CAH): Definition and Enzymatic Defects in Various Forms. Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia. 2021:1-18. https://doi.org/10.1007/978- 3-030-82591-1_1
Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, Arlt W, Auchus RJ, Falhammar H, et al. Congenital adrenal hyperplasia—current insights in pathophysiology, diagnostics, and management. Endocrinereviews.2022;43(1):91-159. https://doi.org/10.1210/endrev/bnab016
New MI, Lekarev O, Jacob M, Macdonald A, Parsa A, Yuen TT. Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Genetic steroid disorders: Elsevier; 2023. p. 35-61.
https://doi.org/10.1016/B978-0-12-821424-4.00031- 9
Mallappa A, Merke DP. Management challenges and therapeutic advances in congenital adrenal hyperplasia. Nature Reviews Endocrinology. 2022;18(6):337-52. https://doi.org/10.1038/s41574-
-00655-w
Sotiriou P. Non-classical congenital adrenal hyperplasia: reproductive dysfunction in women and genetic guidance of affected couples (Doctoral dissertation, Aristotle University of Thessaloniki), 2023. GRI-2023-41712.pdf (auth.gr)
Ergun-Longmire B, Rowland D, Dewey J, Vining- Maravolo P. A narrative review: an update on primary adrenal insufficiency (PAI) in pediatric population. Pediatric Medicine. 2023;6. doi: 10.21037/pm-22-2
Witchel SF, Lee PA. Ambiguous genitalia. Sperling Pediatric Endocrinology: Elsevier; 2021. p. 123-74.
Khan S, Tafweez R, Haider A, Yaqoob M. Spectrum of external genital anomalies in disorders of sex development at children hospital & institute of child health, Lahore, Pakistan. Pakistan Journal of MedicalSciences.2021;37(1):244.
doi:10.12669/pjms.37.1.2991
Mansoor S. Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan. Orphanet Journal of Rare Diseases. 2020;15(1):321. https://doi.org/10.1186/s13023-020-01602-6
Fatima W, Rafiq T, Mahmood S. Congenital Adrenal Hyperplasia in Patients with Disorders of Sexual Differentiation. The Journal Of Microbiology And Molecular Genetics. 2020;1(3):25-30.
https://doi.org/10.52700/jmmg.v1i3.10
Ullah H, Ahmad FM, Hmaid S, Afzal A, Munir S. Assessment of the Frequency of Different Patterns of Clinical Presentation of Children Presenting with Congenital Adrenal Hyperplasia. Pakistan Postgraduate Medical Journal. 2020;31(04):178-81. https://doi.org/10.51642/ppmj.v31i04.388
Umair M, Rafeeq M, Alam Q. Rare Genetic Disorders: Advancements in Diagnosis and Treatment: Springer Nature; 2024.
Monteiro A, Pavithran PV, Puthukulangara M, Bhavani N, Nampoothiri S, Yesodharan D, et al. Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS). Hormones. 2023;22(2):311-20. https://doi.org/10.1007/s42000-023-00445-7
Mukhtar A, Munir R, Tha STM, Amil J, Rasheed S, Javaid MF. Various Clinical Manifestations of Congenital Adrenal Hyperplasia in Children. Pakistan Journal of Medical & Health Sciences. 2022;16(09):745.https://doi.org/10.53350/pjmhs221 69745
Seneviratne SN, Jayarajah U, Gunawardana S, Samarasinghe M, de Silva S. Gender-role behaviour and gender identity in girls with classical congenital adrenal hyperplasia. BMC pediatrics. 2021;21(1):262. https://doi.org/10.1186/s12887-021-02742-9
Bacila IA, Lawrence NR, Badrinath SG, Balagamage C, Krone NP. Biomarkers in congenital adrenal hyperplasia. Clinical Endocrinology. 2023. https://doi.org/10.1111/cen.14960
Ghemigian AM, Dumitru N. Congenital Adrenal Hyperplasia. 2022. DOI: 10.5772/intechopen.106520
Dehkordi EH, Khaheshi S, Mostofizadeh N, Hashemipour M. Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia. Advanced Biomedical Research. 2021;10(1):19. DOI: 10.4103/abr.abr_219_20
Pofi R, Prete A, Thornton-Jones V, Bryce J, Ali SR, Faisal Ahmed S, et al. Plasma renin measurements are unrelated to mineralocorticoid replacement dose in patients with primary adrenal insufficiency. The Journal of Clinical Endocrinology & Metabolism. 2020;105(1):314-26. https://doi.org/10.1210/clinem/dgz055
Amelia N, Esa T, Kurniawan LB, Artati RD. Salt- Wasting Congenital Adrenal Hyperplasia in A 2- Year-Old Patient. Indonesian Journal of Clinical Pathology and Medical Laboratory. 2023;30(1):102https://doi.org/10.24293/ijcpml.v30i 1.1925
Reddy NA, Sharma S, Das M, Kapoor A, Maskey U. Devastating salt-wasting crisis in a four- month-old male child with congenital adrenal hyperplasia, highlighting the essence of neonatal screening. Clinical Case Reports. 2022;10(7):e6010. https://doi.org/10.1002/ccr3.6010
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