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Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype

SUMMARY: 17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she...

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Autores principales: Bouça, Bruno, Cascão, Mariana, Fiúza, Pedro, Amaral, Sara, Bogalho, Paula, Silva-Nunes, José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337863/
https://www.ncbi.nlm.nih.gov/pubmed/37199305
http://dx.doi.org/10.1530/EDM-22-0338
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author Bouça, Bruno
Cascão, Mariana
Fiúza, Pedro
Amaral, Sara
Bogalho, Paula
Silva-Nunes, José
author_facet Bouça, Bruno
Cascão, Mariana
Fiúza, Pedro
Amaral, Sara
Bogalho, Paula
Silva-Nunes, José
author_sort Bouça, Bruno
collection PubMed
description SUMMARY: 17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an uncharacteristic morphotype, BMI of 16.7 kg/m(2), cutaneous hyperpigmentation, and Tanner stage M1P1, with normal female external genitalia. She reported to have primary amenorrhea. Further analytical evaluations of her hormone levels were performed CT scan revealed adrenal bilateral hyperplasia and absence of female internal genitalia. A nodular lesion was observed in the left inguinal canal with 25 × 10 mm, compatible with a testicular remnant. Genetic analysis identified the c.3G>A p.(Met1?) variant in homozygosity in the CYP17A1 gene, classified as pathogenic, confirming the diagnosis of 17OHD. Karyotype analysis was compatible with 46,XY. The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favored the diagnosis of 17OHD, confirmed by genetic testing. As in other published clinical cases, diagnosis outside pediatric age is not rare and should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics. LEARNING POINTS: The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favor the diagnosis of 17-alpha-hydroxylase deficiency (17OHD). Diagnosis outside pediatric age is not rare. 17OHD should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.
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spelling pubmed-103378632023-07-13 Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype Bouça, Bruno Cascão, Mariana Fiúza, Pedro Amaral, Sara Bogalho, Paula Silva-Nunes, José Endocrinol Diabetes Metab Case Rep Unique/Unexpected Symptoms or Presentations of a Disease SUMMARY: 17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an uncharacteristic morphotype, BMI of 16.7 kg/m(2), cutaneous hyperpigmentation, and Tanner stage M1P1, with normal female external genitalia. She reported to have primary amenorrhea. Further analytical evaluations of her hormone levels were performed CT scan revealed adrenal bilateral hyperplasia and absence of female internal genitalia. A nodular lesion was observed in the left inguinal canal with 25 × 10 mm, compatible with a testicular remnant. Genetic analysis identified the c.3G>A p.(Met1?) variant in homozygosity in the CYP17A1 gene, classified as pathogenic, confirming the diagnosis of 17OHD. Karyotype analysis was compatible with 46,XY. The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favored the diagnosis of 17OHD, confirmed by genetic testing. As in other published clinical cases, diagnosis outside pediatric age is not rare and should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics. LEARNING POINTS: The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favor the diagnosis of 17-alpha-hydroxylase deficiency (17OHD). Diagnosis outside pediatric age is not rare. 17OHD should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics. Bioscientifica Ltd 2023-05-02 /pmc/articles/PMC10337863/ /pubmed/37199305 http://dx.doi.org/10.1530/EDM-22-0338 Text en © the author(s) https://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Unique/Unexpected Symptoms or Presentations of a Disease
Bouça, Bruno
Cascão, Mariana
Fiúza, Pedro
Amaral, Sara
Bogalho, Paula
Silva-Nunes, José
Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
title Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
title_full Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
title_fullStr Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
title_full_unstemmed Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
title_short Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
title_sort diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,xy karyotype
topic Unique/Unexpected Symptoms or Presentations of a Disease
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337863/
https://www.ncbi.nlm.nih.gov/pubmed/37199305
http://dx.doi.org/10.1530/EDM-22-0338
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