{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T05:35:04Z","timestamp":1793684104880,"version":"4.5.1"},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,7,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0713_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>17\u03b2-hydroxysteroid dehydrogenase 3 (17\u03b2-HSD3) deficiency results in insufficient biosynthesis of testosterone and consequently dihydrotestosterone. This is important for the fetal development of male genitalia. Thus, most 46,XY patients with 17\u03b2-HSD3 deficiency have a female appearance at birth and present with virilization at puberty. This study presents the differences in the clinical and hormonal data and analyses of gonadal characteristics in two siblings with 17\u03b2-HSD3 deficiency.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0713_abs_003\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Patient 1 presented with deepening of the voice and signs of virilization at puberty and increased serum levels of testosterone (T)\u00a0of 10.9\u00a0nmol\/L (2.9\u00a0SDS) and androstenedione (\u03944) of 27\u00a0nmol\/L (3.3\u00a0SDS) were observed. The T\/\u03944-ratio was 0.39. Patient 2 was clinically prepubertal at the time of diagnosis, but she also had increased levels of T at 1.97\u00a0nmol\/L (2.9\u00a0SDS), \u03944 at 5\u00a0nmol\/L (3.3\u00a0SDS), and the T\/\u03944-ratio was 0.40, but without signs of virilization. Both siblings were diagnosed as homozygous for the splice-site mutation c.277+4A&gt;T in intron 3 of <jats:italic>HSD17B3<\/jats:italic>. They were subsequently gonadectomized and treated with hormone replacement therapy. The gonadal histology was overall in accordance with pubertal status, although with a dysgenetic pattern in both patients, including Sertoli-cell-only tubules, few tubules containing germ cells, and presence of microliths.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0713_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Two siblings with 17\u03b2-HSD3 deficiency differed in pubertal development at the time of diagnosis and showed marked differences in their clinical presentation, hormonal profile, gonadal morphology and expression of cell lineage markers. Early diagnosis of 17\u03b2-HSD3 deficiency appears beneficial to ameliorate long-term consequences.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0713","type":"journal-article","created":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T07:41:14Z","timestamp":1649749274000},"page":"953-961","source":"Crossref","is-referenced-by-count":4,"title":["Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17\u03b2-hydroxysteroid dehydrogenase 3 deficiency"],"prefix":"10.1515","volume":"35","author":[{"given":"Benedikte","family":"von Spreckelsen","sequence":"first","affiliation":[{"name":"Department of Growth and Reproduction , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lise","family":"Aksglaede","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trine Holm","family":"Johannsen","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John E.","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina M.","family":"Main","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"J\u00f8rgensen","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rikke Beck","family":"Jensen","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) , Copenhagen University Hospital\u00a0\u2013 Rigshospitalet , Copenhagen , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,4,13]]},"reference":[{"key":"2023033122065297653_j_jpem-2021-0713_ref_001","doi-asserted-by":"crossref","unstructured":"Boehmer, ALM, Brinkmann, AO, Sandkuijl, LA, Halley, DJJ, Niermeijer, MF, Andersson, S, et al.. 17\u03b2-Hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. 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