Hyperandrogenemia and ovarian reserve in patients with Mayer–Rokitansky–Küster–Hauser syndrome type 1 and 2: potential influences on ovarian stimulation

Henes, Melanie; Jurow, Ludmila; Peter, Andreas; Schoenfisch, Birgitt; Taran, Florin Andrei; Huebner, Markus; Seeger, Harald; Brucker, Sara; Rall, Kristin Katharina

doi:10.1007/s00404-017-4596-1

Cited by 14 publications

(17 citation statements)

References 37 publications

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“…Other relevant laboratory tests include FSH, LH, androgens and estradiol, which are generally considered to be normal in MRKH syndrome [3,83]. However, biochemical (non-clinical) hyperandrogenemia was recently reported in~50% of patients [84], but this finding requires further validation. Uterus agenesis/aplasia in MRKH syndrome has two phenotypic presentations.…”

Section: Clinical Presentation Diagnosis and Associated Malformationsmentioning

confidence: 99%

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Herlin

Petersen

Brännström³

2020

Orphanet J Rare Dis

171

160

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Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46,XX). Main body: The diagnosis is often made during adolescence following investigations for primary amenorrhea and has an estimated prevalence of 1 in 5000 live female births. MRKH syndrome is classified as type I (isolated uterovaginal aplasia) or type II (associated with extragenital manifestations). Extragenital anomalies typically include renal, skeletal, ear, or cardiac malformations. The etiology of MRKH syndrome still remains elusive, however increasing reports of familial clustering point towards genetic causes and the use of various genomic techniques has allowed the identification of promising recurrent genetic abnormalities in some patients. The psychosexual impact of having MRKH syndrome should not be underestimated and the clinical care foremost involves thorough counselling and support in careful dialogue with the patient. Vaginal agenesis therapy is available for mature patients following therapeutical counselling and education with non-invasive vaginal dilations recommended as first-line therapy or by surgery. MRKH syndrome involves absolute uterine factor infertility and until recently, the only option for the patients to achieve biological motherhood was through gestational surrogacy, which is prohibited in most countries. However, the successful clinical trial of uterus transplantation (UTx) by a Swedish team followed by the first live-birth in September, 2014 in Gothenburg, proofed the first available fertility treatment in MRKH syndrome and UTx is now being performed in other countries around the world allowing women with MRKH syndrome to carry their own child and achieve biological motherhood. Conclusion: Several advances in research across multiple disciplines have been made in the recent years and this kaleidoscopic review provides a current status of various key aspects in MRKH syndrome and provides perspectives for future research and improved clinical care.

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Section: Clinical Presentation Diagnosis and Associated Malformationsmentioning

confidence: 99%

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Herlin

Petersen

Brännström³

2020

Orphanet J Rare Dis

171

160

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“…Indeed, the use of oral contraceptives with antiandrogenic potential, such as cyproterone acetate with ethinyl estradiol, is suggested by the European S1 guideline for HS for female patients with menstrual abnormalities, signs of hyperandrogenism, or upper normal or increased serum levels of DHEA, androstenedione, and/or SHBG [19]. As regards the MRKH syndrome, Henes et al [20] reported that the proportion of hyperandrogenemia without clinical symptoms was significantly high in MRKH syndrome patients when compared to age-matched controls. Herein, we reported the case of a Caucasian female affected by MRKH syndrome which developed for the first time HS manifestations after starting an ovarian stimulation to perform IVF.…”

Section: Discussion/conclusionmentioning

confidence: 99%

Hidradenitis Suppurativa in a Patient Affected by Mayer-Rokitansky-Küster-Hauser Syndrome: Insight into the Role of Hormones in HS

Ruggiero¹,

Fabbrocini²,

Megna³

et al. 2020

Skin Appendage Disord

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Introduction: Hidradenitis suppurativa (HS) is an inflammatory skin disease, which usually occurs after puberty. Even if the pathogenesis of HS is still unproven, numerous studies hypothesized that the disease is triggered by genetic and environmental factors, with hormones playing a central role. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital malformation in which a failure of Müllerian duct development results in absent uterus and fallopian tubes and malformations of the vagina. Case Presentation: A 38-year-old Caucasian female referred at our outpatient clinic affected by HS. Before the appearance of HS manifestations, the patient referred to a gynecologist due to difficulties in getting pregnant. The sonographic findings were consistent with MRKH syndrome. An ovarian stimulation for in vitro fertilization was started. However, after 3 months the patient showed the first HS onset. After the hormonal treatment ended, a combined treatment with rifampicin and clindamycin was started, showing a great clinical improvement at week 10. Discussion/Conclusion: HS usually appears after puberty, exhibits premenstrual flare, improves in pregnancy, and worsens postpartum, which indicates a role of hormones and particularly of androgens in its pathophysiology. Contrasting data are reported in the literature. Our case wants to strengthen the idea that hormones could play an important role, probably with other endogenous or exogenous factors. Multidisciplinary investigations will clarify which part is played by each factor in the pathogenesis of HS.

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“…They have spontaneous ovulation and normal ovarian reserve. 17 Ovarian anomalies are rare, and include unilateral agenesis, ectopic location, polycystic or streak morphology. The ovaries are occasionally displaced cranially and laterally to the external iliac arteries, 2,6 though most reported oocyte retrievals are performed transvaginally.…”

Section: Creation Of the Neovaginamentioning

confidence: 99%

Reproductive Technology Considerations in Uterus Transplant

Walter

O’Neill

2021

Clinical Obstetrics &Amp; Gynecology

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Uterus transplantation (UTx) provides a new pathway to parenthood for patients with absolute uterine factor infertility. The application of reproductive technologies, such as in vitro fertilization, embryo cryopreservation, and frozen embryo transfers, for this unique population, is particularly nuanced and continually evolving. There are important pretransplant and posttransplant reproductive considerations for physicians and patients anticipating UTx. As with any rapidly evolving medical innovation, efforts to consolidate experiences and knowledge by centers offering UTx is paramount.

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Hyperandrogenemia and ovarian reserve in patients with Mayer–Rokitansky–Küster–Hauser syndrome type 1 and 2: potential influences on ovarian stimulation

Cited by 14 publications

References 37 publications

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Hidradenitis Suppurativa in a Patient Affected by Mayer-Rokitansky-Küster-Hauser Syndrome: Insight into the Role of Hormones in HS

Reproductive Technology Considerations in Uterus Transplant

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