Aetiological profile of women presenting with premature ovarian failure to a single tertiary care center in Oman

Gowri, Vaidyanathan; Shukri, Maryam Al; Al-Farsi, Fatma Abdulaziz; Al-Busaidi, Nadya Ahmed; Dennison, David; Kindi, Salam Al; Daar, Shahina; Farsi, Khalil Al; Pathare, Anil

doi:10.1177/2053369115587419

Cited by 11 publications

(7 citation statements)

References 31 publications

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“…3–5 In recent years, the incidence of POF has been increasing rapidly with about 0.1% among women younger than 30 and about 1–3% among women under 40. 6,7 Clinical therapy of POF has several limitations, except for hormone replacement therapy (HRT) and follicular donation. 8 Two types of HRT are used to treat POF, including standard sex steroid replacement (sSSR) and physiological sex steroid replacement (pSSR).…”

Section: Introductionmentioning

confidence: 99%

Tilapia skin peptides restore cyclophosphamide-induced premature ovarian failure via inhibiting oxidative stress and apoptosis in mice

Zhao

Yin

et al. 2022

Food Funct.

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Section: Introductionmentioning

confidence: 99%

Tilapia skin peptides restore cyclophosphamide-induced premature ovarian failure via inhibiting oxidative stress and apoptosis in mice

Zhao

Yin

et al. 2022

Food Funct.

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“…Premature ovarian insufficiency (POI), also known as premature ovarian failure, refers to hypergonadotropic hypogonadism in women younger than 40 years and is one of the major causes of female infertility, affecting at least 1–3% of adult women in the world (Bannatyne et al, 1990). Apart from menstrual disturbance (amenorrhea or oligomenorrhea for at least 4 months), the main symptoms of POI are reduced levels of estradiol and elevated plasma levels of follicle stimulating hormone (FSH) (>25 mIU/ml on two occasions, > 4 weeks apart) (Shelling, 2010; Gowri et al, 2015; Tucker et al, 2016; Webber et al, 2016). The etiology of POI is complex, such as that for autoimmune diseases, chemotherapy, and pelvic surgery, among which genetic defect was reported to be related to POI (Franca et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency

Xiao

Zhang

et al. 2019

Front. Genet.

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Premature ovarian insufficiency (POI) is a severe clinical syndrome defined by ovarian dysfunction in women less than 40 years old who generally manifest with infertility, menstrual disturbance, elevated gonadotrophins, and low estradiol levels. STAG3 is considered a genetic aetiology of POI, which facilitates entry of REC8 into the nucleus of a cell and plays an essential role in gametogenesis. At present, only six truncated variants associated with POI have been reported; there have been no reports of an in-frame variant of STAG3 causing POI. In this study, two novel homozygous in-frame variants (c.877_885del, p.293_295del; c.891_893dupTGA, p.297_298insAsp) in STAG3 were identified in two sisters with POI from a five-generation consanguineous Han Chinese family. To evaluate the effects of these two variants, we performed fluorescence localization and co-immunoprecipitation analyses using in vitro cell model. The two variants were shown to be pathogenic, as neither STAG3 nor REC8 entered nuclei, and interactions between mutant STAG3 and REC8 or SMC1A were absent. To the best of our knowledge, this is the first report on in-frame variants of STAG3 that cause POI. This finding extends the spectrum of variants in STAG3 and sheds new light on the genetic origins of POI.

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“…The prevalence of POI is approximately 1% [2]. Apart from menstrual disturbance, the main symptoms of POI are the decrease of estradiol levels and the increase of plasma follicle-stimulating hormone levels (FSH) (> 25 mIU/ml on two occasions, > 4 weeks apart) [3,4].…”

Section: Introductionmentioning

confidence: 99%

Two novel biallelic mutations in PSMC3IP in a Chinese patient affected by primary ovarian insufficiency: case report and review of the literature

Mei¹,

Huang²,

Huang³

et al. 2021

Preprint

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Background:Premature ovarian insufficiency (POI) is a heterogeneous condition occurring when a woman experiences a loss of ovarian activity before the age of 40. It is one of the most common reproductive endocrine diseases in women of childbearing age. Here, we investigated the clinical manifestations and genetic features of a Chinese patient affected by POI.Methods: We applied next-generation whole-exome capture sequencing with Sanger direct sequencing to the proband and her clinically unaffected family members. Results: Two novel compound heterozygous mutations were identified in the PSMC3IP gene. The first is a splicing mutation (c.597+1G>T) that was inherited from her father, while the second mutation (c.268G>C p.D90H) was also discovered in her mother and younger sister. The two mutations were co-segregated with the disease phenotype in the family. Conclusions: To our knowledge, this is the first report of PSMC3IP mutations causing POI in the Chinese population. Our findings further support the key role of the PSMC3IP gene in the etiology of POI. However, additional studies are required to explore the underlying molecular mechanisms involved.

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Aetiological profile of women presenting with premature ovarian failure to a single tertiary care center in Oman

Cited by 11 publications

References 31 publications

Tilapia skin peptides restore cyclophosphamide-induced premature ovarian failure via inhibiting oxidative stress and apoptosis in mice

Tilapia skin peptides restore cyclophosphamide-induced premature ovarian failure via inhibiting oxidative stress and apoptosis in mice

In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency

Two novel biallelic mutations in PSMC3IP in a Chinese patient affected by primary ovarian insufficiency: case report and review of the literature

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