{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:01:40Z","timestamp":1790168500317,"version":"4.1.0"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"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:p>\n                    Persistent M\u00fcllerian duct syndrome (PMDS) is a rare difference\/disorder of sex development and maturation characterized by the retention of M\u00fcllerian structures during fetal development in individuals with a 46,XY karyotype. It is typically due to mutations in anti-M\u00fcllerian hormone (\n                    <jats:italic>AMH<\/jats:italic>\n                    ) or its receptor, anti-M\u00fcllerian hormone receptor type 2 (\n                    <jats:italic>AMHR2<\/jats:italic>\n                    ). Here, we report a novel\n                    <jats:italic>de novo<\/jats:italic>\n                    heterozygous loss-of-function frameshift variant in protein phosphatase 1 regulatory subunit 12A (\n                    <jats:italic>PPP1R12A<\/jats:italic>\n                    ; p.Lys197IlefsTer13) identified in a 46,XY neonate presenting with bilateral cryptorchidism and a M\u00fcllerian remnant detected on pelvic ultrasound. Hormonal evaluation during the first days of life and minipuberty revealed the expected activation of the hypothalamic-pituitary-gonadal axis and preserved gonadal function: serum inhibin B, 108 pg\/mL; AMH, 174.4 pmol\/L; and testosterone, 1.4 nmol\/L at birth; and inhibin B, 259 pg\/mL; AMH, 342 pmol\/L; testosterone, 9.2 nmol\/L; LH, 19.1 IU\/L; and FSH, 10.4 IU\/L, respectively. At 10 months, AMH (149.8 pmol\/L) and inhibin B (76 pg\/mL) concentrations were below the reported age-specific reference intervals, raising the possibility of evolving Sertoli cell dysfunction.\n                    <jats:italic>In silico<\/jats:italic>\n                    analyses predict a truncated protein and\/or nonsense-mediated mRNA decay. The endocrine profile supports the hypothesis that the\n                    <jats:italic>PPP1R12A<\/jats:italic>\n                    variant may contribute to PMDS through abnormal duct development rather than primary gonadal failure. These findings broaden the endocrine phenotype associated with this syndrome and suggest a role for\n                    <jats:italic>PPP1R12A<\/jats:italic>\n                    in M\u00fcllerian duct regression and differentiation rather than in gonadal development.\n                  <\/jats:p>","DOI":"10.3389\/fendo.2026.1882699","type":"journal-article","created":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T12:42:06Z","timestamp":1789476126000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Minipuberty hormonal profile in PPP1R12A-related persistent M\u00fcllerian duct syndrome"],"prefix":"10.3389","volume":"17","author":[{"given":"Marie","family":"Voide","sequence":"first","affiliation":[{"name":"Faculty of Biology and Medicine, University of Lausanne","place":["Lausanne, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Santoni","sequence":"additional","affiliation":[{"name":"Faculty of Biology and Medicine, University of Lausanne","place":["Lausanne, Switzerland"]},{"name":"Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital","place":["Lausanne, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Bartoloni","sequence":"additional","affiliation":[{"name":"Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital","place":["Lausanne, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Meylan-Merlini","sequence":"additional","affiliation":[{"name":"Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital","place":["Lausanne, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Service of Pediatric Surgery, Department of Mother-Woman-Child, Lausanne University hospital","place":["Lausanne, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Hauschild","sequence":"additional","affiliation":[{"name":"Faculty of Biology and Medicine, University of Lausanne","place":["Lausanne, Switzerland"]},{"name":"Pediatric Endocrinology, Diabetology, and Obesity Unit, Service of Pediatric, Department of Mother-Woman-Child, Lausanne University Hospital","place":["Lausanne, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelly","family":"Pitteloud","sequence":"additional","affiliation":[{"name":"Faculty of Biology and Medicine, University of Lausanne","place":["Lausanne, Switzerland"]},{"name":"Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital","place":["Lausanne, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanetee","family":"Busiah","sequence":"additional","affiliation":[{"name":"Faculty of Biology and Medicine, University of Lausanne","place":["Lausanne, Switzerland"]},{"name":"Pediatric Endocrinology, Diabetology, and Obesity Unit, Service of Pediatric, Department of Mother-Woman-Child, Lausanne University Hospital","place":["Lausanne, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deac239","article-title":"Persistent m\u00fcllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase","volume":"37","author":"Picard","year":"2022","journal-title":"Hum Reprod"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1159\/000475516","article-title":"The persistent m\u00fcllerian duct syndrome: An update based upon a personal experience of 157 cases","volume":"11","author":"Picard","year":"2017","journal-title":"Sex Dev"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.12.004","article-title":"Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations","volume":"106","author":"Hughes","year":"2020","journal-title":"Am J Hum Genet"},{"key":"B4","article-title":"PPP1R12A-related urogenital and\/or brain malformation syndrome","volume":"16","author":"Alkhunaizi","year":""},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2223","article-title":"Clinical report and genetic analysis of a neonate with genitourinary and\/or brain malformation syndrome caused by a non-coding sequence variant of PPP1R12A","volume":"11","author":"Diao","year":"2023","journal-title":"Mol Genet Genomic 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concentrations of inhibin B in healthy females and males throughout life","volume":"110","author":"Borelli-Kj\u00e6r","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.17458\/per.vol17.2020.tsm.neonatalinfantintervalsArgentina","article-title":"Neonatal and infant reference intervals for FSH, LH, testosterone, estradiol, cortisol and DHEA-S by electrochemiluminescence in Argentina","volume":"17","author":"Tarifa","year":"2020","journal-title":"Pediatr Endocrinol Rev"},{"key":"B11","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1186\/s12920-024-02009-z","article-title":"Functional analysis of a novel nonsense PPP1R12A variant in a Chinese family with infantile epilepsy","volume":"17","author":"Tong","year":"2024","journal-title":"BMC Med Genomics"},{"key":"B12","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1186\/s13052-018-0523-8","article-title":"Inhibin B in healthy and cryptorchid 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