Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
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 hype...
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Bioscientifica
2023-06-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2023/2/EDM22-0338.xml |
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| author | Bruno Bouça Mariana Cascão Pedro Fiúza Sara Amaral Paula Bogalho José Silva-Nunes |
| author_facet | Bruno Bouça Mariana Cascão Pedro Fiúza Sara Amaral Paula Bogalho José Silva-Nunes |
| author_sort | Bruno Bouça |
| collection | DOAJ |
| description | 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/m2, 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. |
| first_indexed | 2024-03-13T05:52:49Z |
| format | Article |
| id | doaj.art-5bb5d7ad31a84bf686a864a1d523e491 |
| institution | Directory Open Access Journal |
| issn | 2052-0573 |
| language | English |
| last_indexed | 2024-03-13T05:52:49Z |
| publishDate | 2023-06-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrinology, Diabetes & Metabolism Case Reports |
| spelling | doaj.art-5bb5d7ad31a84bf686a864a1d523e4912023-06-13T08:24:34ZengBioscientificaEndocrinology, Diabetes & Metabolism Case Reports2052-05732023-06-01111510.1530/EDM-22-0338Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotypeBruno Bouça0Mariana Cascão1Pedro Fiúza2Sara Amaral3Paula Bogalho4José Silva-Nunes5Department of Endocrinology, Diabetes and Metabolism - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal; Nova Medical School/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal Intensive Care Unit - Centro Hospitalar Universitário de Lisboa Central, Lisbon, PortugalDepartment of Internal Medicine, Unit 7.2 - Centro Hospitalar Universitário de Lisboa Central, Lisbon, PortugalDepartment of Endocrinology, Diabetes and Metabolism - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal; Nova Medical School/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal Department of Endocrinology, Diabetes and Metabolism - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal; Nova Medical School/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal Department of Endocrinology, Diabetes and Metabolism - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal; Nova Medical School/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal; Health and Technology Research Center (H&TRC), Escola Superior de Tecnologia da Saude de Lisboa, Lisbon, Portugal 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/m2, 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.https://edm.bioscientifica.com/view/journals/edm/2023/2/EDM22-0338.xml |
| spellingShingle | Bruno Bouça Mariana Cascão Pedro Fiúza Sara Amaral Paula Bogalho José Silva-Nunes Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype Endocrinology, Diabetes & Metabolism Case Reports |
| 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 |
| url | https://edm.bioscientifica.com/view/journals/edm/2023/2/EDM22-0338.xml |
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