{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T04:45:58Z","timestamp":1782708358590,"version":"3.54.5"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T00:00:00Z","timestamp":1782691200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>17\u03b1-hydroxylase\/17, 20-lyase deficiency (17OHD) represents a rare form of congenital adrenal hyperplasia. Affected 46, XX females typically present with sexual development abnormalities, endocrine disturbances and infertility. While assisted reproductive technology (ART) enables pregnancies in these patients, our knowledge about optimal management strategies and pregnancy outcomes remains limited.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a retrospective cohort study of women with 17OHD who achieved clinical pregnancy at our center between January 2009 and August 2025, followed until December 2025. Moreover, we performed a systematic review of published cases, extracting and analyzing demographic, clinical, laboratory, treatment, and outcome data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 20 female patients with 17OHD at our center, six desired fertility and three achieved clinical pregnancy with ART. Combined with 17 reported cases from 12 studies, a total of 20 pregnancies resulted in 23 live births. Median age at pregnancy preparation was 29 (range 21\u201342) years. The prevalence rates of hypertension and adrenal insufficiency were 25.0% (5\/20) and 50.0% (10\/20), respectively. Median follicular-phase progesterone was 20.8 nmol\/L. Seventeen women conceived via frozen embryo transfer (FET) following ovarian stimulation, including nine with GnRH agonists (GnRHa), six with progestin-primed ovarian stimulation, one with GnRH antagonists, and one with GnRHa short protocol, respectively. Nearly 95% (18\/19) participants received glucocorticoids before embryo transfer. Pregnancy complications (including gestational hypertension, diabetes, preeclampsia, and HELLP syndrome) occurred in 46.2% (6\/13) cases. Only 25% (5\/20) of the participants had term vaginal deliveries. All five offspring that were followed up developed normally.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>For women with 17OHD, a treatment protocol combining glucocorticoid-assisted progesterone suppression with FET represents a viable strategy to achieve pregnancy. However, such patients face high risks of adverse maternal and perinatal outcomes, requiring multidisciplinary management throughout gestation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2026.1864787","type":"journal-article","created":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T04:26:11Z","timestamp":1782707171000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical pregnancy outcomes with assisted reproduction in patients with 17\u03b1-Hydroxylase\/17, 20-lyase deficiency: a single center cohort study and integrated analysis with reported cases"],"prefix":"10.3389","volume":"17","author":[{"given":"Ye","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, State Key Laboratory of Female Fertility Promotion, Peking University Third Hospital","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunmei","family":"Zhang","sequence":"additional","affiliation":[{"name":"National Clinical Research Centre for Obstetrical and Gynecological Diseases, State Key Laboratory of Female Fertility Promotion, Ministry of Education Key Laboratory of Assisted Reproduction, Centre for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ran","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, State Key Laboratory of Female Fertility Promotion, Peking University Third Hospital","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rong","family":"Li","sequence":"additional","affiliation":[{"name":"National Clinical Research Centre for Obstetrical and Gynecological Diseases, State Key Laboratory of Female Fertility Promotion, Ministry of Education Key Laboratory of Assisted Reproduction, Centre for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[{"name":"National Clinical Research Centre for Obstetrical and Gynecological Diseases, State Key Laboratory of Female Fertility Promotion, Ministry of Education Key Laboratory of Assisted Reproduction, Centre for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haining","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, State Key Laboratory of Female Fertility Promotion, Peking University Third Hospital","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1530\/ey.20.6.14","article-title":"Congenital adrenal hyperplasia","volume":"401","author":"Auer","year":"2023","journal-title":"Lancet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1007\/s40618-025-02750-x","article-title":"Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management","volume":"49","author":"Cavarzere","year":"2026","journal-title":"J Endocrinol Invest"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2013.11.011","article-title":"Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase\/17,20-lyase deficiency and isolated 17,20-lyase deficiency","volume":"101","author":"Marsh","year":"2014","journal-title":"Fertil Steril"},{"key":"B4","doi-asserted-by":"crossref","DOI":"10.33029\/9704-4951-6-PEND-1-848","volume-title":"Williams Textbook of Endocrinology","author":"Melmed","year":"2020"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.31222\/osf.io\/v7gm2_v1","article-title":"The PRISMA 2020 statement: an updated guideline for reporting systematic reviews","volume":"372","author":"Page","year":"2021","journal-title":"BMJ"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.humrep.a136319","article-title":"Induction of artificial endometrial cycles with oestradiol implants and injectable progesterone: establishment of a viable pregnancy in a woman with 17-alpha-hydroxylase deficiency","volume":"10","author":"Ben-Nun","year":"1995","journal-title":"Hum Reprod"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1023\/a:1021206704958","article-title":"Familial partial 17,20-desmolase and 17alpha-hydroxylase deficiency presenting as infertility","volume":"20","author":"Levran","year":"2003","journal-title":"J Assist Reprod Genet"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3201","article-title":"Successful live birth in a woman with 17\u03b1-hydroxylase deficiency through IVF frozen-thawed embryo transfer","volume":"101","author":"Bianchi","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1111\/cen.13549","article-title":"Successful fertility outcome in a woman with 17\u0251-hydroxylase deficiency","volume":"88","author":"Falhammar","year":"2018","journal-title":"Clin Endocrinol (Oxf)"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1080\/09513590.2017.1393512","article-title":"Two consecutive successful live birth in woman with 17\u03b1 hydroxylase deficiency by frozen-thaw embryo transfer under hormone replacement endometrium preparation","volume":"34","author":"Kitajima","year":"2018","journal-title":"Gynecol Endocrinol"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgab222","article-title":"Successful delivery in 17,20-lyase deficiency","volume":"106","author":"Blumenfeld","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgac029","article-title":"Phenotypic heterogeneity and fertility potential of patients with 17-hydroxylase\/17,20-lyase deficiency","volume":"107","author":"Xu","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.970190","article-title":"Reproductive endocrine characteristics and in vitro fertilization treatment of female patients with partial 17\u03b1-hydroxylase deficiency: two pedigree investigations and a literature review","volume":"13","author":"Jiang","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.971993","article-title":"Dexamethasone application for in vitro fertilisation in non-classic 17-hydroxylase\/17,20-lyase-deficient women","volume":"13","author":"Yang","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"key":"B15","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1186\/s12905-023-02492-z","article-title":"Full-term live birth in a woman with 17\u03b1-hydroxylase and 17,20-lyase deficiency with assisted reproductive technology: a case report","volume":"23","author":"Xi","year":"2023","journal-title":"BMC Womens Health"},{"key":"B16","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1186\/s13048-023-01190-6","article-title":"Endocrine profiles and cycle characteristics of infertile 17\u03b1-hydroxylase\/17,20-lyase deficiency patients undergoing assisted reproduction treatment: a retrospective cohort study","volume":"16","author":"Pan","year":"2023","journal-title":"J Ovarian Res"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2024.103855","article-title":"Successful live birth in women with partial 17\u03b1-hydroxylase deficiency: report of two cases","volume":"49","author":"Du","year":"2024","journal-title":"Reprod BioMed Online"},{"key":"B18","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1007\/s11154-022-09770-5","article-title":"The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum","volume":"24","author":"Maher","year":"2023","journal-title":"Rev Endocr Metab Disord"},{"key":"B19","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.fertnstert.2015.03.022","article-title":"Medroxyprogesterone acetate is an effective oral alternative for preventing premature luteinizing hormone surges in women undergoing controlled ovarian hyperstimulation for in vitro fertilization","volume":"104","author":"Kuang","year":"2015","journal-title":"Fertil Steril"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1186\/s13048-020-00620-z","article-title":"Outcomes of fertility preservation in women with endometriosis: comparison of progestin-primed ovarian stimulation versus antagonist protocols","volume":"13","author":"Mathieu d'Argent","year":"2020","journal-title":"J Ovarian Res"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.2147\/clep.s226414","article-title":"Comparison between PPOS and GnRHa-long protocol in clinical outcome with the first IVF\/ICSI cycle: a randomized clinical trial","volume":"12","author":"Xi","year":"2020","journal-title":"Clin Epidemiol"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.4103\/jhrs.jhrs_85_22","article-title":"Comparing progesterone primed ovarian stimulation (PPOS) to GnRH antagonist protocol in oocyte donation cycles","volume":"15","author":"Khurana","year":"2022","journal-title":"J Hum Reprod Sci"},{"key":"B23","volume-title":"Yen & Jaffe's Reproductive Endocrinology: Physiology, Pathophysiology, and Clinical Management","author":"Strauss","year":"2019"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmt014","article-title":"Progesterone elevation and probability of pregnancy after IVF: a systematic review and meta-analysis of over 60 000 cycles","volume":"19","author":"Venetis","year":"2013","journal-title":"Hum Reprod Update"},{"key":"B25","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1210\/endrev\/bnab016","article-title":"Congenital adrenal hyperplasia-current insights in pathophysiology, diagnostics, and management","volume":"43","author":"Claahsen-van der Grinten","year":"2022","journal-title":"Endocr Rev"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1097\/maj.0b013e31824369e4","article-title":"Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"344","author":"Mnif","year":"2012","journal-title":"Am J Med Sci"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2026.1864787\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T04:26:12Z","timestamp":1782707172000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2026.1864787\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,29]]},"references-count":26,"alternative-id":["10.3389\/fendo.2026.1864787"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2026.1864787","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,29]]},"article-number":"1864787"}}