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

Daolio, Jessica; Sperduti, Samantha; Casarini, Livio; Falbo, Angela; Materazzo, Caterina; Aguzzoli, Lorenzo; Villani, Maria Teresa

doi:10.1186/s12920-023-01473-3

Table 2 Summary of published OHSS cases related to different clinical contests

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

Reference	Genotype	Phenotype	Context details	Patient’s condition		Onset of symptoms	Outcome
Multiple pregnancy
Gil Navarro N, 2017	No mutation		Ovarian torsion	Natural twin pregnancy		11th
Agrawal NR et al., 2012	Not tested			Natural triplet pregnancy		6th	Abortion induction
Sugaya S and Hiroi T, 2012			Previous ovulation induction plus FSH	Natural quadruplet pregnancy		3rd	Abortion induction
Molar pregnancy
Cohen E et al., 2019	Not tested			Hydatiform mole		12th
Tsubokura H et al., 2019	Not tested			Hydatiform mole		9th
Alhalabi K et al., 2016	Not tested			Hydatiform mole		14th
Gaggero Cr et al., 2016	Not tested			Hydatiform mole		12th
Wu X et al., 2015	p.Ala307Thr p.Ser680Asn	Hypersensitivity to hCG and TSH; constitutive activity		Hydatiform mole		9th
Teo UL et al., 2013	Not tested			Hydatiform mole		12th
Zhou X and Duan Z, 2012	Not tested			Hydatiform mole		16th
Rachad M et al., 2011	Not tested			Hydatiform mole		12th
Strafford M et al., 2009	Not tested			Hydatiform mole		12th
Arora R et al., 2008	Not tested			Hydatiform mole
Ludwig M et al., 1998	Not tested			Hydatiform mole		15th
Pituitary adenoma
Broughton C et al., 2018	Not tested			Pituitary adenoma
Oueslati I et al., 2016	Not tested			Pituitary adenoma
Halupczok J et al., 2014	Not tested			Pituitary adenoma
Kawaguchi T et al., 2013	Not tested			Pituitary adenoma
Kanaya M et al., 2012	Not tested			Pituitary adenoma
Garmes HM et al., 2012	Not tested			Pituitary adenoma
Macchia E et al., 2012	Not tested			Pituitary adenoma
Gryngarten MG et al., 2010	Not tested			Pituitary adenoma		Post-menarcheal girl
Baba T et al., 2009	No mutation			Pituitary adenoma		After positive pregnancy test
Castelo-Branco C et al., 2009	Not tested			Pituitary adenoma
Cooper O et al., 2008	Not tested			Pituitary adenoma
Ghayuri M and Liu JH, 2007				Pituitary adenoma
Knoepfelmacher M et al., 2006	Not tested			Pituitary adenoma
Kihara M et al., 2006	Not tested			Pituitary adenoma
Roberts JE et al., 2005	Not tested			Pituitary adenoma
Maruyama T et al., 2005	p.Met512Ile (Uchida S et al., 2013)	Inactive mutant		Pituitary adenoma
Murakami T et al., 2004	Not tested			Pituitary adenoma
Murata Y et al., 2003	Not tested			Pituitary adenoma
Castelbaum AJ et al., 2002	Not tested			Pituitary adenoma
Shimon I et al., 2001	Not tested			Pituitary adenoma
Pentz-Vidovíc I et al., 2000	Not tested			Pituitary adenoma
Vӓlimӓki MJ et al., 1999	Not tested			Pituitary adenoma
Christin-Maitre S et al., 1998	Not tested			Pituitary adenoma
Djerassi A et al., 1995	Not tested			Pituitary adenoma
Hypothyroidism
Kim SJ et al., 2017	Not tested			Hypothyroidism
Ilanchezhian S et al., 2015	Not tested			Hypothyroidism
Rajaram S et al., 2015	Not tested			Hypothyroidism
Lodh M et al., 2014	Not tested			Hypothyroidism		Admission 15 days after ET	iOHSS
Erol O et al., 2013	No mutation			Hypothyroidism
Langroudi RM et al., 2013	Not tested			Hypothyroidism
Kanza RE et al., 2013	Not tested		PCOS Pituitary hyperplasia	Hypothyroidism
Sridev S and Barathan S, 2013	Not tested			Hypothyroidism		9th
Hedayati Emami MH et al., 2012	Not tested		Familial	Hypothyroidism
Akbay E et al., 2010	Not tested		Recurrent sOHSS during pregnancies	Hypothyroidism		10th and 12th
Edwards-Silva RN et al., 2008	Not tested			Hypothyroidism		10th
Borna S and Nasery A, 2007	Not tested		sOHSS	Hypothyroidism		20th
Sultan A et al., 2006	No mutation			Hypothyroidism
Guvenal F et al., 2006	Not tested			Hypothyroidism
Mousavi AS et al., 2005	Not tested			Hypothyroidism
Taher BM et al., 2004	No mutation (De Leener A et al., 2006)	High levels of TSH		Hypothyroidism
Corsado CG et al., 1999				Hypothyroidism		12th
Nappi RG et al., 1998	No mutation (De Leener A et al., 2006)	High levels of TSH		Hypothyroidism		12th
Chen CP et al., 1996	Not tested			Hypothyroidism
Rotmensch S and Scommegna A, 1989	Not tested			Hypothyroidism
Natural conception
Nakatsuka M et al., 2019	Not tested			Natural conception	After delivery
Morotti E and Battaglia C, 2019	Not tested			Natural conception	8th
Rastin Z et al., 2019	Not tested			Natural conception	8th
Lazzaretti C et al., 2019	p.Asn106His p.Ser128Tyr	Inactive mutant Hypersensitivity to hCG		Natural conception	11th
Celik S et al., 2019	Not tested			Natural conception	9th - continuation of disease after abortion
Topdagi Yilmaz EP et al., 2018	p.Ser128Tyr p.Ala307Thr p.Ser680Asp	Hypersensitivity to hCG Hypersensitivity to hCG and TSH; constitutive activity		Natural conception	12th
Topdagi Yilmaz EP et al., 2018	p.Ser128Tyr	Hypersensitivity to hCG		Natural conception		10th
Cabar FR, 2016	Not tested			Natural conception		12th
Osaikhuwuomwan JA and Osemwenkha AP, 2016	Not tested			Natural conception		10th
Davoudian P, 2015	Not tested			Placental dysplasia		16th	Miscarriage
Chauhan AR et al., 2015	p.Thr449Asn	Not tested		Natural conception		8th
Munshi S, 2014	Not tested		Ovarian torsion	Natural conception		9th
Di Carlo C, 2013 (patient’s cousin in Di Carlo C et al., 2012)	p.Thr449Ala (Montanelli L et al., 2004 J Clin Endocrinol Metabol)	Hypersensitivity to hCG and TSH	Recurrent and familial	Natural conception		8th (both patient and cousin)	Patient with ovarian torsion two years after delivery (Di Carlo C et al., 2015)
Panagiotopoulou N, 2013	p.Ile545Thr	Hypersensitivity to hCG and TSH; constitutive activity	Recurrent and familial	Natural conception		10th
Di Carlo C, 2012	p.Thr449Ala (Montanelli L et al., 2004 J Clin Endocrinol Metabol)	Hypersensitivity to hCG and TSH	Recurrent and familial	Natural conception in a patient and her cousin		7th (patient) – not reported (cousin)	Both abortion induction
Kanagalingam MG, 2011	Not tested			Natural conception		10th
Irvine LM, 2011	Not tested			Natural conception		8th
Ahmed Kamel RM, 2010	Not tested			Natural conception		12th
Dieterich M et al., 2010	p.Asp567Asn	Increased basal activity		Natural conception		12th and 10th
Lussiana C et al., 2009	p.Thr307Thr p.Asn680Asn	polymorphism		Natural conception		Abortion at 22th
Dasanayake DL et al., 2009	Not tested		Recurrent and familial	Natural conception		9th
O’Brien K et al., 2009	Not tested			Natural conception		17th	Abortion induction
Lovgren TR et al., 2009	Not tested		recurrent	Natural conception		8th
Michaelson-Cohen R et al., 2008	p. Ala307Thr p.Ser680Asn	Hypersensitivity to hCG and TSH; constitutive activity		Natural conception		10th
He C et al., 2008	Not tested			After delivery
Oztekin O et al., 2006	Not tested	High levels of hCG		Natural conception		9th
Cepni I et al., 2006	p.Ser128Tyr (De Leener A et al., 2008 HUM MUTAT)	Hypersensitivity to hCG		Natural conception		11th
Eftekhar Z et al., 2005	Not tested		Ovarian torsion	Natural conception		11th
Haimov-Kochman R et al., 2004	No mutation (De Leener A et al., 2006)	High levels of hCG		Natural conception		13th
Baksu A et al., 2004	Not tested		Ovarian torsion	Natural conception		10th
Suzuki S, 2004	p.Asp567Gly (Montanelli L et al., 2004 Mol Endocrinol)	Hypersensitivity to hCG and TSH; constitutive activity		Natural conception		11th
Suzuki S, 2004	No mutation (De Leener A et al., 2006)	High levels of hCG		Natural conception		6th
Vasseur C et al., 2003	p.Thr449Ile	Hypersensitivity to hCG	Recurrent and familial	Natural conception		8th
Chae HD et al., 2001	p.Ile545Thr (De Leener A et al., 2006)	Hypersensitivity to hCG and TSH; constitutive activity		Natural conception		12th
Akerman FM et al., 2000		hCG/LH receptor investigated		Natural conception		12th
Todros T et al., 1999	Not tested		Factor V Leiden mutation	Natural conception		10th
Di Carlo C et al., 1997	p.Thr449Ala (Montanelli L et al., 2004 J Clin Endocrinol Metabol)	Hypersensitivity to hCG and TSH	Recurrent, familial	Natural conception		10th
Edi-Osagie EC and Hopkins RE, 1997	p.Ile545Thr (mother of patient’s from Panagiotopoulou N et al., 2013)	Hypersensitivity to hCG and TSH; constitutive activity	Recurrent and familial	Natural conception
Abu-Louz SK et al., 1997	Not tested			Natural conception		12th
Ayhan A et al., 1996	Not tested			Natural conception		12th
Lipitz S et al., 1996	Not tested			Natural conception		10th
Olatunbosun OA et al., 1996	p.Asp567Asn (Smits G et al., 2003)	Increased basal activity	Recurrent in a PCOS woman	Natural conception			sOHSS
Zalel Y et al., 1995			Recurrent in a PCOS woman	Natural conception			sOHSS
Zalel Y et al., 1992			PCOS	Natural conception			sOHSS
Rosen GF and Lew MW, 1991				Natural conception			sOHSS
Non-pregnant women and virgin girls
Hugon-Rodin J et al., 2017	p.Arg634His	Inactive mutant	Recurrent	Non pregnant
Attia L et al., 2007			Bilateral ovarian masses	Not pregnant
Sahin L and Yavuzcan A, 2013	Not tested		Recurrent	Virgin girl
IVF
Castillo J et al., 2019	Not tested			Egg-donation IVF cycle with concomitant pregnancy		Admission 4 days after ovum pick-up (5th week of gestation)	iOHSS
Cohen E et al., 2019	Not tested			COS		Admission in the evening of ovum pick-up	iOHSS
Orvieto S et al., 2017	Not tested		Extrauterine pregnancy	COS		Admission 6 days after ovum pick-up	iOHSS
Pereira N et al., 2017	Not tested		PCOS	COS		Admission 2 days after ovum pick-up	iOHSS
Kim MK et al., 2014	p.Ala307Thr p.Ser680Asn	Hypersensitivity to hCG and TSH; constitutive activity	PCOS	Twin pregnancy following a FER cycle		11th	sOHSS - Preterm delivery and Persisted 6 weeks after delivery
Kim J et al., 2012	Not tested			IVF cycle (fertility preservation)		Admission 5 days after hCG trigger	iOHSS
Taniguchi LU et al., 2011	Not tested		Previous OHSS after IVF	IVF (fresh cycle) twin pregnancy		5th	Very late iOHSS
Crochet JR et al., 2011	Not tested			IVF cycle		Admission 10 days after hCG trigger	iOHSS
Zech NH et al., 2005	Not tested			IVF (fresh cycle) pregnancy		6th	Very late iOHSS

Abbreviations: COS, controlled ovarian stimulation; FER, frozen embryo replacement; hCG, human chorionic gonadotropins; IVF, in vitro fertilization; iOHSS, iatrogenic ovarian hyperstimulation syndrome; LH, luteinizing hormone; OHSS, ovarian hyperstimulation syndrome; PCOS, polycystic ovary syndrome; sOHSS, spontaneous ovarian hyperstimulation syndrome; TSH, thyroid stimulating hormone.

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ISSN: 1755-8794

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