Endometriosis in a 22-Year-Old with Premature Ovarian Insufficiency Secondary to Pre-Pubertal Bone Marrow Transplant: a Case Report

Endometriosis is often diagnosed in reproductive aged women with spontaneous ovarian activity. Here we described a case of endometriosis diagnosed in a patient with premature ovarian insufficiency (POI) due to prepubertal bone marrow transplant (BMT). The patient is a 22-year-old nulligravid female who presented with chronic pelvic pain. She had an inherited bone marrow failure syndrome (Diamond-Blackfan anemia), which required gonadotoxic chemotherapy for BMT at a young age prior to puberty. At age 13, she received hormone therapy with transdermal estrogen with subsequent addition of cyclic progestin and was later transitioned to combined oral contraceptive pills (COC). Endometriosis was suspected due to progressive dysmenorrhea and multiple cyclic systemic symptoms. She underwent a trial of elagolix, but could not tolerate it due to worsened arthralgia. Norethindrone acetate (NET-A) was then started, and she underwent diagnostic laparoscopy. Laparoscopy revealed scattered superficial endometriotic lesions in the pelvis. Histological studies showed florid endometriosis. Patient continues on NET-A 10mg and oral estradiol 0.5mg daily since the surgery and has experienced sustained improvement in her symptoms. Endometriosis should be considered as a possible cause for progressive dysmenorrhea or pelvic pain, even in the setting of POI. The balance between HT for overall health benefits in young women with POI and the risk of endometriosis exacerbation is delicate, but achievable. Similar content being viewed by others

Taylor HS, Kotlyar AM, Flores VA. Endometriosis is a chronic systemic disease: clinical challenges and novel innovations. Lancet. 2021;397:839–52. Zondervan KT, Becker CM, Missmer SA. Endometriosis. N Engl J Med. 2020;382:1244–56. Gemmell LC, Webster KE, Kirtley S, Vincent K, Zondervan KT, Becker CM. The management of menopause in women with a history of endometriosis: a systematic review. Hum Reprod Update. 2017;23:481–500. Lotz L, Dietl A, Hoffmann I, Müller A, Burghaus S, Beckmann MW, et al. Endometriosis in women undergoing ovarian tissue transplantation due to premature menopause after gonadotoxic treatment or spontaneous premature ovarian failure. Acta Obstet Gynecol Scand. 2022;101:771–8. Matalliotakis M, Matalliotaki C, Trivli A, Zervou MI, Kalogiannidis I, Tzardi M, et al. Keeping an Eye on Perimenopausal and Postmenopausal Endometriosis. Diseases. 2019;7:29. Chen H, Zhu H, Zhang K, Chen K, Yang H. Estrogen deficiency accelerates lumbar facet joints arthritis. Sci Rep. 2017;7:1379. Kourounis G, Fotopoulos A, Decavalas G, Michail G. Endometriosis and ovarian dysgenesis: a case report. Clin Exp Obstet Gynecol. 2004;31:311–2. Tazuke S, Milki A. Endometrioma of uterine serosa in a woman with mosaic Turner’s syndrome receiving hormone replacement therapy: case report. Hum Reprod. 2002;17:2977–80. Gargett CE, Schwab KE, Brosens JJ, Puttemans P, Benagiano G, Brosens I. Potential role of endometrial stem/progenitor cells in the pathogenesis of early-onset endometriosis. Mol Hum Reprod. 2014;20:591–8. Bevans M, El-Jawahri A, Tierney DK, Wiener L, Wood WA, Hoodin F, et al. National Institutes of Health hematopoietic cell transplantation late effects initiative: the patient-centered outcomes working group report. Biol Blood Marrow Transplant. 2017;23:538–51. Dyson MT, Roqueiro D, Monsivais D, Ercan CM, Pavone ME, Brooks DC, et al. Genome-wide DNA methylation analysis predicts an epigenetic switch for GATA factor expression in endometriosis. PLoS Genet. 2014;10:e1004158. Matorras R, Elorriaga MA, Pijoan JI, Ramón O, Rodriguez-Escudero FJ. Recurrence of endometriosis in women with bilateral adnexectomy (with or without total hysterectomy) who received hormone replacement therapy. Fertil Steril. 2002;77:303–8. Tanmahasamut P, Rattanachaiyanont M, Techatraisak K, Indhavivadhana S, Wongwananuruk T, Chantrapanichkul P. Menopausal hormonal therapy in surgically menopausal women with underlying endometriosis. Climacteric : the journal of the International Menopause Society. 2022;25:388–94. Stuenkel CA, Gompel A. Primary ovarian insufficiency. N Engl J Med. 2023;388:154–63. Barbieri RL. Hormone treatment of endometriosis: the estrogenthreshold hypothesis. Am J Obstet Gynecol. 1992;166:740–5. Faubion SS, Kingsberg SA, Clark AL, Kaunitz AM, Spadt SK, Larkin LC, et al. The 2020 genitourinary syndrome of menopause position statement of The North American Menopause Society. Menopause. 2020;27:976–92. Stanczyk FZ, Archer DF, Bhavnani BR. Ethinyl estradiol and 17β-estradiol in combined oral contraceptives: pharmacokinetics, pharmacodynamics and risk assessment. Contraception. 2013;87:706–27. Chu MC, Zhang X, Gentzschein E, Stanczyk FZ, Lobo RA. Formation of ethinyl estradiol in women during treatment with norethindrone acetate. The Journal of Clinical Endocrinology & Metabolism. 2007;92:2205–7. Kuhnz W, Heuner A, Hümpel M, Seifert W, Michaelis K. In vivo conversion of norethisterone and norethisterone acetate to ethinyl etradiol in postmenopausal women. Contraception. 1997;56:379–85. Gazarra LBC, Bonacordi CL, Yela DA, Benetti-Pinto CL. Bone mass in women with premature ovarian insufficiency: a comparative study between hormone therapy and combined oral contraceptives. Menopause. 2020;27:1110–6. Author information Authors and Affiliations Corresponding author Ethics declarations The authors did not receive support from any organization for the submitted work. The authors have no relevant financial or non-financial interests to disclose Conflict of interest The authors report no conflict of interest. Additional information Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Rights and permissions Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. About this article Cite this article Liao, C., Ramani, S., Parkash, V. et al. Endometriosis in a 22-Year-Old with Premature Ovarian Insufficiency Secondary to Pre-Pubertal Bone Marrow Transplant: a Case Report. Reprod. Sci. 31, 2700–2705 (2024). https://doi.org/10.1007/s43032-024-01601-z Received: Accepted: Published: Version of record: Issue date: DOI: https://doi.org/10.1007/s43032-024-01601-z