{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T10:58:16Z","timestamp":1781002696148,"version":"3.54.1"},"reference-count":13,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2015,9,28]],"date-time":"2015-09-28T00:00:00Z","timestamp":1443398400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Reports"],"abstract":"<jats:p>Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC) was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG), confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.<\/jats:p>","DOI":"10.4081\/pr.2015.5936","type":"journal-article","created":{"date-parts":[[2015,9,28]],"date-time":"2015-09-28T10:13:09Z","timestamp":1443435189000},"page":"5936","source":"Crossref","is-referenced-by-count":8,"title":["Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism"],"prefix":"10.3390","volume":"7","author":[{"given":"Marta","family":"Loureiro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filipa","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Br\u00edgida","family":"Robalo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lurdes","family":"Sampaio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2015,9,28]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"55","DOI":"10.4274\/Jcrpe.895","article-title":"Primary adrenal insufficiency caused by a novel mutation in DAX1 gene","volume":"5","author":"Evliyao lu","year":"2013","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"3048","DOI":"10.1210\/jc.2006-0603","article-title":"Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years\u2019 experience","volume":"91","author":"Lin","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1172\/JCI118866","article-title":"Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production","volume":"98","author":"Habiby","year":"1996","journal-title":"J Clin Invest"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1590\/S0004-27302012000800006","article-title":"A novel DAX1\/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism","volume":"56","author":"Battistin","year":"2012","journal-title":"Arq Bras Endocrinol Metabol"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1111\/j.1365-2265.2004.01988.x","article-title":"Inherited adrenal hypoplasia: not just for kids!","volume":"60","author":"Lin","year":"2004","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1590\/S0004-27302013000700011","article-title":"Mild adrenal insufficiency due to a NROB1 (DAX1) gene mutation in a boy presenting an association of hypogonadotropic hypogonadism, reduced final height and attention deficit disorder","volume":"57","author":"Calliari","year":"2013","journal-title":"Arq Bras Endocrinol Metabol"},{"key":"ref7","first-page":"1189","article-title":"Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1","volume":"27","author":"Ali","year":"2014","journal-title":"J Pediatr Endocrinol Metabol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.ando.2010.04.003","article-title":"Adrenal hypoplasia congenita - 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