IDSD2026 Poster Abstracts Poster Abstracts (93 abstracts)
Minipuberty hormonal profile in PPP1R12A-related persistent müllerian duct syndrome
Marie Voide 1 , Federico Santoni 1,2 , Lucia Bartoloni 1,2 , Jenny Meylan-Merlini 1,2 , Oliver Sanchez 3 , Michael Hauschild 1,4 , Nelly Pitteloud 1,2, & Kanetee Busiah 1,4
1Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland; 2Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne, Switzerland; 3Service of Pediatric surgery, Department of Mother-Woman-Child, Lausanne University hospital, Lausanne, Switzerland; 4Pediatric Endocrinology, Diabetology, and Obesity Unit, Service of Pediatric, Department of Mother-Woman-Child, Lausanne University Hospital, Lausanne, Switzerland. Correspondence to: [email protected]
Background: Persistent Müllerian Duct Syndrome (PMDS) is a rare disorder of sex development and maturation characterized by the retention of Müllerian structures during fetal development in individuals with a 46,XY karyotype. It is typically due to mutations in AMH or its receptor AMHR2.
Case presentation: We report a novel de novo heterozygous loss-of-function frameshift variant in PPP1R12A (p.Lys197IlefsTer13) identified in a 46,XY neonate presenting with bilateral cryptorchidism and a Müllerian remnant detected on pelvic ultrasound. Hormonal evaluation during the first days of life and mini-puberty revealed expected activation of the hypothalamic-pituitary-gonadal axis and preserved gonadal function: serum Inhibin B : 108pg/mL, AMH: 174.4pmol/l, Testosterone : 1.4nmol/l, and Inhibin B: 259pg/mL, AMH: 342pmol/l, testosterone: 9.2nmol/l, LH: 10.4IU/L, FSH: 19.1IU/L, respectively. However, subsequent assessment suggested the development of secondary gonadal impairment (Inhibin B: 76pg/mL and AMH: 149.8pmol/l at age 10 months). Although in silico analyses predict impaired protein synthesis, the endocrine profile supports a model were PPP1R12A gene variant contributes to PMDS primarily through abnormal duct Müllerian development rather than primary gonadal failure.
Conclusions: These findings broaden the endocrine phenotype associated with this syndrome and suggest a role for PPP1R12A gene in Mullerian duct rather than gonads development.
Volume 118
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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