Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype
Abstract
:1. Introduction
2. Patient Information and Clinical Findings
3. Diagnostic Approach
3.1. Laboratory Assessment
3.2. Molecular Analysis of the CYP21A2 Gene
4. Follow-Up and Outcomes
5. Discussion
6. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
17-OHP | 17-hydroxyprogesterone |
21OHD | 21-hydroxylase enzyme deficiency |
ADHD | attention-deficit hyperactivity disorder |
CAH | congenital adrenal hyperplasia |
FSH | follicle stimulating hormone |
FT4 | free thyroxine |
IGF-1 | insulin-like growth factor 1 |
LH | luteinizing hormone |
NC-CAH | non-classical congenital adrenal hyperplasia |
POF | primary ovarian failure |
SDHEA | dehydroepiandrosterone sulfate |
TSH | thyroid stimulating hormone |
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Hormones | First Sample | Confirmatory Sample | Reference Values |
---|---|---|---|
TSH | 0.59 μIU/mL | 0.85 μIU/mL | 0.4–4.5 μIU/mL |
FT4 | 1.2 μIU/mL | 1.4 μIU/mL | 0.7–1.8 μIU/mL |
IGF-1 | NA | 214 ng⁄mL | 5–40 years 109.0–284.0 ng/mL |
Prolactin | 11 ng/mL | 19 ng/mL | Non-pregnancy < 30 ng/mL |
FSH | 90 IU/L | 105 IU/L | Post-menopause > 30 IU/L |
LH | 50 IU/L | 69 IU/L | Post-menopause 5.2 to 62.9 IU/L |
17-OHP | 728 ng/dL | 1074 ng/dL | Follicular phase: up to 110 ng/dL Luteal phase: 86 to 400 ng/dL |
Testosterone | 52 ng/dL | 84 ng/dL | Women > 21 years: 12.0–59.5 ng/dL |
SDHEA | NE | 605 µg/dL | 35–44 years: 74.8–410 µg/dL |
Time | Cortisol | 17-OH Progesterone |
---|---|---|
Basal 0′ | 10.3 NR: 5.0–25.0 µg/dL | 658 NR: FP 20–130 ng/dL NR: LP 100–450 ng/dL |
After 30′ | 14.7 NR: >18 µg/dL | 1699 1500–6000 ng/dL confirm NC-CAH |
After 60′ | 17.1 NR: >18 µg/dL | 5808 >1500–6000 ng/dL confirm NC-CAH |
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de Sousa Azulay, R.S.; Facundo, A.N.; Sousa, S.S.e.; Nascimento, G.C.; Magalhães, M.; de Oliveira Neto, C.P.; de Abreu, J.D.M.F.; Lago, D.C.F.; da Silva Pereira Damianse, S.; de Carvalho, V.C.; et al. Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype. Genes 2025, 16, 354. https://doi.org/10.3390/genes16030354
de Sousa Azulay RS, Facundo AN, Sousa SSe, Nascimento GC, Magalhães M, de Oliveira Neto CP, de Abreu JDMF, Lago DCF, da Silva Pereira Damianse S, de Carvalho VC, et al. Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype. Genes. 2025; 16(3):354. https://doi.org/10.3390/genes16030354
Chicago/Turabian Stylede Sousa Azulay, Rossana Santiago, Alexandre Nogueira Facundo, Sarah Sousa e Sousa, Gilvan Cortes Nascimento, Marcelo Magalhães, Clariano Pires de Oliveira Neto, Joana D’arc Matos França de Abreu, Débora Cristina Ferreira Lago, Sabrina da Silva Pereira Damianse, Viviane Chaves de Carvalho, and et al. 2025. "Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype" Genes 16, no. 3: 354. https://doi.org/10.3390/genes16030354
APA Stylede Sousa Azulay, R. S., Facundo, A. N., Sousa, S. S. e., Nascimento, G. C., Magalhães, M., de Oliveira Neto, C. P., de Abreu, J. D. M. F., Lago, D. C. F., da Silva Pereira Damianse, S., de Carvalho, V. C., Nascimento, C. A., Rodrigues, V. P., Coeli-Lacchini, F. B., de Castro, M., & dos Santos Faria, M. (2025). Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype. Genes, 16(3), 354. https://doi.org/10.3390/genes16030354