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Genital ambiguity among persons with XY sexual chromosomes comprises diverse and rare etiologies. The deficiency of 17-beta-hydroxysteroid dehydrogenase type 3 enzyme (HSD17B3) is a rare autosomal recessive disorder due to functionally altered variants of the <jats:italic>HSD17B3<\/jats:italic> gene. In this disorder\/difference of sex development, the conversion of androstenedione into testosterone is impaired. The appearance of external genitalia of 46,XY individuals varies from typically male to almost female.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report on a child presenting severe ambiguous genitalia. Due to access constraints, specialized care did not start until the child was 10\u00a0months old. Parents are consanguineous and were born in an area of high isonymy that is a cluster for rare recessive diseases. A new homozygous missense variant c.785G\u2009&gt;\u2009T was found in exon 10 of the <jats:italic>HSD17B3<\/jats:italic> gene.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Researchers-clinicians and researchers-researchers collaborative efforts to elucidate the genetic basis of this disease were critical since this etiologic investigation is not available through the public health system. This case exemplifies the families\u2019 pilgrimage in cases of genital ambiguity due to a rare genetic condition. Recognizing the etiology was the baseline to provide information on prognosis and treatment options, and to shelter family and child doubts and hopes in order to better support their decisions.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13052-022-01284-9","type":"journal-article","created":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T19:02:47Z","timestamp":1654887767000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["So, and if it is not congenital adrenal hyperplasia? 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The informed consent approved by the Research Ethics Committee of the Federal University of Alagoas (# 19144013.5.0000.5013\u2014Comite\u0302 de \u00c9tica em Pesquisa of the Universidade Federal de Alagoas) states that one of the aims of the study is to reach the diagnosis to provide treatment and genetic counseling for the participant family. Since this case refers to an autosomal recessive disease, the study of genetic variants in both parents is an inherent part of the diagnostic investigation. Without this, genetic counseling is not possible.According to Brazilian law, in the case of minors (individuals younger than the age of 18), consent for participation in research protocols must be given by one of the parents or legal guardians. In line with this regulation, it was obtained the mother\u2019s written consent. By consenting to the participation of the child, the parents agree to the investigation of the causative variant in their genetic material.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Participant\u2019s mother provided written informed consent and the father\u2019s consent was verbal following Brazilian regulations above mentioned. The consent clearly states that information will be used for scientific purposes, and no personal information will be disclosed.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"89"}}