Fertility in adult women with classic galactosemia and primary ovarian insufficiency

Erven, Britt van; Berry, Gerard T.; Cassiman, David; Connolly, Geraldine; Forga, María; Gautschi, Matthias; Gubbels, Cynthia S.; Hollak, Carla E. M.; Janssen, Mirian C. H.; Knerr, Ina; Labrune, Philippe; Langendonk, Janneke G.; Õunap, Katrin; Thijs, Abel; Vos, Rein; Wortmann, Saskia B.; Rubio-Gozalbo, M. Estela

doi:10.1016/j.fertnstert.2017.05.013

Cited by 50 publications

(45 citation statements)

References 45 publications

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“…Of these 9, all of whom had achieved spontaneous menarche, only one received medical intervention before becoming pregnant. That 9/15 women with CG in our cohort who attempted pregnancy did become pregnant is encouraging and consistent with results reported recently by van Erven and colleagues (van Erven et al 2017); however, our sample was small and may not be representative of the larger population.…”

Section: Discussionsupporting

confidence: 91%

“…Spencer and colleagues (Spencer et al 2013) reported that 11 of 28, or 39% of post-pubertal women in their cohort had achieved menarche only after receiving hormone therapy (HRT). Finally, van Erven and colleagues (van Erven et al 2017) reported that >55% of their cohort of 85 women with CG and current POI had required HRT to achieve menarche. In all of these studies, POI is a strikingly common experience for girls and women with CG.…”

Section: Introductionmentioning

confidence: 99%

“…Of the 26 women who achieved spontaneous menarche in the Waggonner cohort (Waggoner et al 1990), most developed oligomenorrhea or secondary amenorrhea within a few years, and only 5 of 17 were still cycling regularly in their early 20s. The Schweitzer (Schweitzer et al 1993), Spencer (Spencer et al 2013), and van Erven (van Erven et al 2017) studies did not report on longitudinal progression of POI in their cohorts.…”

Section: Introductionmentioning

confidence: 99%

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Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia

Frederick

Zinsli

Carlock

et al. 2018

J of Inher Metab Disea

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Classic galactosemia (CG) is an inherited metabolic disorder that affects about 1 in 50,000 live births in the United States and many other countries. With the benefit of early detection by newborn screening and rapid dietary restriction of galactose, generally achieved by removing dairy from the diet, most affected infants are spared the acute and potentially lethal symptoms of disease. Despite early detection and life-long dietary intervention, however, most patients grow to experience a constellation of long-term complications that include premature ovarian insufficiency in the vast majority of girls and young women. Our goal in the study reported here was to define the presentation, progression, and predictors of ovarian insufficiency in a cohort of 102 post-pubertal girls and women with CG. To our knowledge, this is the largest cohort studied to date. We found that 68% of the girls and women in our study achieved spontaneous menarche, while 32% achieved menarche only after starting hormone replacement therapy (HRT). Of those who achieved spontaneous menarche, fewer than 50% were still cycling regularly after 3 years, and fewer than 15% were still cycling regularly after 10 years. Of factors tested for possible association with spontaneous menarche, only detectable (≥ 0.04 ng/mL) plasma anti-Müllerian hormone (AMH) level was significant. These results extend substantially from prior studies and confirm that detectable plasma AMH is a useful predictor of ovarian function in girls and women with CG.

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia

Frederick

Zinsli

Carlock

et al. 2018

J of Inher Metab Disea

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“…It has recently been published that almost 30% of women with classic galactosemia and POI who actively attempted to conceive actually succeeded within one year, increasing to almost 50% after 2 years of attempting to become pregnant [10]. The prevalence of spontaneous conception for women with POI of any cause is only 5-10% [11,12], suggesting that women with galactosemia-induced POI are more likely to become spontaneously pregnant compared to women with other causes of POI.…”

Section: Introductionmentioning

confidence: 99%

Cryopreservation of ovarian tissue may be considered in young girls with galactosemia

Mamsen

Kelsey

Ernst

et al. 2018

J Assist Reprod Genet

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“…Subfertility is a multifactorial and complex problem that affects millions of couples worldwide (Dyer, ; Dyer et al, ). Congenital defects, diseases, nutrition, and hormonal regulation can all play a part in regulating fertility (Fair, ; Hohos & Skaznik‐Wikiel, ; Rattan et al, ; van Erven et al, ). More than six million babies have been born worldwide using assisted reproductive technologies (ARTs) since 1978, when the first in vitro fertilization (IVF) baby was born.…”

Section: Introductionmentioning

confidence: 99%

Expression of granulosa cell microRNAs, AVEN and ATRX are associated with human blastocyst development

O’Doherty

O’Brien

Browne

et al. 2018

Molecular Reproduction Devel

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A greater understanding of the key molecules associated with embryo development during human-assisted reproduction is imperative for the development of advanced diagnostics. Previous studies have shown that follicular microRNAs (miRNAs) are reliable markers of the polycystic ovarian syndrome (PCOS). Leveraging the utility of miRNAs in PCOS, the aim of this study was to identify miRNAs in human granulosa cells that may be indicative of blastocyst development. Granulosa cells and oocytes were collected from the first follicle aspirated from patients undergoing oocyte retrieval for in vitro fertilization or intracytoplasmic sperm injection. The development of isolated oocytes was recorded, and granulosa cell samples in this study were separated as follows. Group 1-BLAST: granulosa cells from follicles containing an oocyte that fertilized and developed into a blastocyst, and Group 2-FERT: granulosa cells from oocytes that fertilized but failed to reach blastocyst. A panel of 84 miRNAs, related to development and cellular differentiation, was assessed between the two groups using a miScript PCR array. Fourteen miRNAs and one snoRNA were differentially expressed between the groups. In addition, two downstream candidate protein biomarkers, ATRX and AVEN, were also found to be differentially expressed between the groups. The findings of this pilot study reveal follicular abnormalities on a molecular level, which may affect oocyte competence and its potential to develop successfully as an embryo. We encourage additional studies to confirm and expand on our findings and to determine the usefulness of granulosa-borne miRNAs, ATRX, and AVEN as biomarkers.

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Fertility in adult women with classic galactosemia and primary ovarian insufficiency

Cited by 50 publications

References 45 publications

Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia

Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia

Cryopreservation of ovarian tissue may be considered in young girls with galactosemia

Expression of granulosa cell microRNAs, AVEN and ATRX are associated with human blastocyst development

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