{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T03:13:26Z","timestamp":1785208406506,"version":"3.55.0"},"reference-count":11,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p> Congenital hypoaldosteronism is a rare autosomal recessive or dominant endocrinopathy with variable penetrance, secondary to primary defects in aldosterone synthesis that could lead to hypovolemia, hyponatremia, hyperkalemia, failure to thrive, microcephaly, seizures, neurodevelopmental delay, or hearing loss. We present the case of a Colombian patient with congenital hypoaldosteronism, who owns two variants in the CPY11B2 gene, and a heterozygous pathogenic variant for nonclassical congenital adrenal hyperplasia. However, the patient missed follow-up and treatment for 6 years. At the age of 7 years, he resumed medical follow-up with laboratory findings of hyperreninemia and hypoaldosteronism, as well as clinical findings of strabismus, left mixed hyperacusis, and pathological short stature (\u22124.3 SD). Therefore, a trial of fludrocortisone therapy was started with subsequent improvement in renin levels, weight gain, and growth velocity. After 10 months of the start of the medication, he presented hypertension. There is no literature about the late treatment of this condition for pathological short stature. <\/jats:p>","DOI":"10.1177\/2050313x231201724","type":"journal-article","created":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T11:25:17Z","timestamp":1696418717000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Congenital hyperreninemic hypoaldosteronism: A case report"],"prefix":"10.1177","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1064-5844","authenticated-orcid":false,"given":"Maria Elvira","family":"Yupanqui","sequence":"first","affiliation":[{"name":"Fundaci\u00f3n Universitaria Ciencias de la Salud, Endociencia, Bogot\u00e1, Cundinamarca, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camila","family":"Schrader-Florez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fundaci\u00f3n Cardioinfantil\u2014Instituto de Cardiolog\u00eda, Bogot\u00e1, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sof\u00eda","family":"L\u00f3pez-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fundaci\u00f3n Cardioinfantil\u2014Instituto de Cardiolog\u00eda, Bogot\u00e1, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3824-6546","authenticated-orcid":false,"given":"Laura","family":"Valenzuela-Vallejo","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Fundaci\u00f3n Cardioinfantil\u2014Instituto de Cardiolog\u00eda, Bogot\u00e1, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Perez-Barreto","sequence":"additional","affiliation":[{"name":"Pediatrician, Universidad de la Sabana, Ch\u00eda, Cundinamarca, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camila","family":"C\u00e9spedes Salazar","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinologist, Endociencia, Bogot\u00e1, Colombia"},{"name":"Hospital Universitario Fundaci\u00f3n Santa Fe, Hospital Universitario San Ignacio, Bogot\u00e1, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalina","family":"Forero Ronderos","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinologist, Endociencia, Hospital Universitario Fundaci\u00f3n Santa Fe, Hospital Universitario San Ignacio, Bogot\u00e1, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Dur\u00e1n Ventura","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinologist, Fundaci\u00f3n Cardioinfantil\u2014Instituto de Cardiolog\u00eda, Bogot\u00e1, Colombia"},{"name":"Endociencia, Bogot\u00e1, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2023,10,4]]},"reference":[{"key":"bibr1-2050313X231201724","volume-title":"Endotext","author":"Arai K","year":"2000"},{"key":"bibr2-2050313X231201724","doi-asserted-by":"publisher","DOI":"10.1016\/j.steroids.2019.108448"},{"key":"bibr3-2050313X231201724","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-96364-8_9"},{"key":"bibr4-2050313X231201724","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgab619"},{"key":"bibr5-2050313X231201724","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.11.8005"},{"key":"bibr6-2050313X231201724","doi-asserted-by":"publisher","DOI":"10.20945\/2359-3997000000107"},{"key":"bibr7-2050313X231201724","first-page":"1895","author":"Stewart P","journal-title":"Mineralocorticoid deficiency"},{"key":"bibr8-2050313X231201724","volume-title":"StatPearls","author":"Rahman 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