Novel FSH receptor mutation in a case of spontaneous ovarian hyperstimulation syndrome with successful pregnancy outcome

Chauhan, Anahita; Prasad, Madhva; Chamariya, Sumit; Achrekar, Swati K.; Mahale, Smita D.; Mittal, Kartik

doi:10.4103/0974-1208.170410

Cited by 17 publications

(4 citation statements)

References 17 publications

(20 reference statements)

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“…There are a few known mutations, in all domains of FSHR, which produce a spontaneous ovarian hyperstimulation syndrome (with elevated E2, polycystic ovaries), mostly described during pregnancy. The mutated FSHR displays an increased responsiveness to the physiologically high serum level of hCG during the first trimester of pregnancy (11,12). These mutations (eg FSHR D567N, T449A, T449I, S128T) induce an expansion of the receptor's specificity, named promiscuous activation, with hypersensitivity to elevated hCG and TSH levels (2).…”

Section: Activating Fshr Mutations In Womenmentioning

confidence: 99%

Actualities in Mutations of Luteinizing Hormone (Lh) and Folliclestimulating Hormone (Fsh) Receptors

Gheorghiu

2019

Acta Endo (Buc)

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Section: Activating Fshr Mutations In Womenmentioning

confidence: 99%

Actualities in Mutations of Luteinizing Hormone (Lh) and Folliclestimulating Hormone (Fsh) Receptors

Gheorghiu

2019

Acta Endo (Buc)

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“…Ebben az esetben az endogén hCG is liganddá válhat az FSH-receptor számára [20]. Számos publikáció írt le spontán fogant terhesség kapcsán, akár visszatérően is jelentkező, súlyos fokú OHSS-t ilyen jellegű mutációk esetén [21][22][23]. Az FSH-receptor expresszióját negatív irányba szabályozó egyéb fehérjék, például a BMP15 (bone morphogenetic protein 15) csökkent működését okozó mutációja szintén növeli az OHSS kialakulásának kockázatát [24].…”

Section: Kórélettanunclassified

Az ovarialis hiperstimulációs szindróma kórélettana és korszerű klinikuma

et al. 2018

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During assisted reproduction technologies, controlled hyperstimulation of the ovaries occurs. Ovarian hyperstimulation syndrome is an excessive overreaction of the ovaries complicating pharmacological ovulation induction. Rarely other causes, such as the mutation of the follicle-stimulating hormone receptor may also be in the background. Ovarian hyperstimulation syndrome is clinically characterized by a massive ovarian enlargement associated with an acute third-space fluid shift responsible for the development of ascites, and sometimes pleural or pericardial effusion. Associated arterial or venous thromboembolic symptoms are also common. Ovarian hyperstimulation syndrome is an iatrogenic and potentially life-threatening condition in the form of ischemic stroke or circulatory insufficiency of the limbs. Recently some new methods have been developed for the prevention of the disease. The syndrome affects young, healthy patients. It also has an important economic burden due to the absence from work, bed rest, or hospitalization and intensive medical management of more severe cases. Supportive therapy, anticoagulant prophylaxis and close monitoring are the main approach for the syndrome. However, hospitalization or intervention should not be delayed for patients with severe or critical conditions. Orv Hetil. 2018; 159(34): 1390–1398.

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“…Mutant FSHRs with increased sensitivity to glycoprotein hormones and enhanced basal activity were described in OHSS patients [ 27 , 32 – 36 ]. These mutations fall within the transmembrane helices [ 27 , 33 , 35 , 37 ], in the extracellular domain [ 36 , 38 ] and in the cytoplasmic tail [ 39 , 40 ] of the receptor, impacting the FSHR density in the cell surface and the activation of intracellular signaling pathways. More recently, a study found that two biallelic heterozygous FSHR mutations were linked to OHSS in a pregnant patient affected by sOHSS, triggered by hCG [ 22 ].…”

Section: Introductionmentioning

confidence: 99%

Spontaneous and iatrogenic ovarian hyperstimulation syndrome in the absence of FSHR mutations: a case report of two unexpected cases

et al. 2023

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Background Ovarian hyperstimulation syndrome (OHSS) is a complication of controlled ovarian hyperstimulation (COH). It is a potentially life-threatening condition that usually occurs either after human chorionic gonadotropins (hCG) administration in susceptible patients or as a result of an implanting pregnancy, regardless of whether it was achieved by natural conception or infertility treatments. Despite many years of clinical experience regarding the adoption of preventive measures and the identification of patients at high risk, the pathophysiology of OHSS is poorly understood and no reliable predictive risk factors have been identified. Cases presentation We report about two unexpected cases of OHSS following infertility treatments, occurring after freeze-all strategy with embryo cryopreservation approaches. The first case developed spontaneous OHSS (sOHSS), despite efforts to prevent its manifestation by a segmentation approach, including frozen embryo replacement cycle. The second case developed a late form of iatrogenic OHSS (iOHSS), even though the absence of any risk factors. No mutations in the follicle-stimulating hormone (FSH) receptor (FSHR)-encoding gene were detected, suggesting that the high levels of hCG due to the twin implanting pregnancies could be the only triggering factor of OHSS outbreak. Conclusion Freeze-all strategy with embryo cryopreservation cannot entirely prevent the development of OHSS, which may occur in its spontaneous form independently from the FSHR genotype. Although OHSS remains a rare event, all infertile patients requiring ovulation induction or controlled ovarian stimulation (COS) may be at potential risk of OHSS, either in the presence or in the absence of risk factors. We suggest closely monitoring cases of pregnancy following infertility treatments in order to provide early diagnosis and adopt the conservative management.

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Novel FSH receptor mutation in a case of spontaneous ovarian hyperstimulation syndrome with successful pregnancy outcome

Cited by 17 publications

References 17 publications

Actualities in Mutations of Luteinizing Hormone (Lh) and Folliclestimulating Hormone (Fsh) Receptors

Actualities in Mutations of Luteinizing Hormone (Lh) and Folliclestimulating Hormone (Fsh) Receptors

Az ovarialis hiperstimulációs szindróma kórélettana és korszerű klinikuma

Spontaneous and iatrogenic ovarian hyperstimulation syndrome in the absence of FSHR mutations: a case report of two unexpected cases

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