The complexity of fertility preservation for women with Turner syndrome and the potential risks of pregnancy and cardiovascular complications

Abstract Context: Many girls with Turner syndrome have follicles in their ovaries at adolescence. Objective: Our objective was to study which girls might benefit from ovarian tissue freezing for fertility preservation. Design: Clinical and laboratory parameters and ovarian follicle counts were analyzed among girls referred by 25 pediatric endocrinologists. Subjects and Setting: Fifty-seven girls with Turner syndrome, aged 8–19.8 yr, were studied at a university hospital. Interventions: Ovarian tissue was biopsied laparoscopically, studied for the presence of follicles, and cryopreserved. Blood samples were drawn for hormone measurements. Main Outcome Measures: Presence of follicles in the biopsied tissue related to age, signs of spontaneous puberty, karyotype, and serum concentrations of gonadotropins and anti-Müllerian hormone were assessed. Results: Ovarian biopsy was feasible in 47 of the 57 girls. In 15 of the 57 girls (26%), there were follicles in the tissue piece analyzed histologically. Six of seven girls (86%) with mosaicism, six of 22 (27%) with structural chromosomal abnormalities, and three of 28 with karyotype 45X (10.7%) had follicles. Eight of the 13 girls (62%) with spontaneous menarche had follicles, and 11 of the 19 girls (58%) who had signs of spontaneous puberty had follicles. The age group 12–16 yr had the highest proportion of girls with follicles. Normal FSH and anti-Müllerian hormone concentrations for age and pubertal stage were more frequent in girls with follicles. Conclusions: Signs of spontaneous puberty, mosaicism, and normal hormone concentrations were positive and statistically significant but not exclusive prognostic factors as regards finding follicles.

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Fertility preservation in an adolescent with Turner syndrome

Case Studies in Assisted Reproduction ◽

10.1017/cbo9781139794671.021 ◽

2015 ◽

pp. 70-72

Author(s):

Michel De Vos ◽

Nick S. Macklon ◽

Human M. Fatemi ◽

Robert J. Norman ◽

Pasquale Patrizio

Keyword(s):

Turner Syndrome ◽

Fertility Preservation

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Addressing practical concerns surrounding fertility preservation in patients with Turner syndrome

Fertility and Sterility ◽

10.1016/j.fertnstert.2019.05.033 ◽

2019 ◽

Vol 112 (4) ◽

pp. 651-652

Author(s):

Jennifer K. Blakemore ◽

Lili S. Wei ◽

Gwendolyn P. Quinn

Keyword(s):

Turner Syndrome ◽

Fertility Preservation

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DuoStim: a new option for fertility preservation for a woman with Turner syndrome

Gynecological Endocrinology ◽

10.1080/09513590.2020.1822805 ◽

2020 ◽

Vol 36 (12) ◽

pp. 1144-1148

Author(s):

Ayumu Ito ◽

Yukiko Katagiri ◽

Yuko Tamaki ◽

Yusuke Fukuda ◽

Ayako Oji ◽

...

Keyword(s):

Turner Syndrome ◽

Fertility Preservation

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Progress in Fertility Preservation Strategies in Turner Syndrome

Frontiers in Medicine ◽

10.3389/fmed.2020.00003 ◽

2020 ◽

Vol 7 ◽

Cited By ~ 3

Author(s):

Mudan Ye ◽

John Yeh ◽

Ioanna Kosteria ◽

Li Li

Keyword(s):

Turner Syndrome ◽

Fertility Preservation

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Fertility preservation in Turner syndrome

Fertility and Sterility ◽

10.1016/j.fertnstert.2015.11.042 ◽

2016 ◽

Vol 105 (1) ◽

pp. 13-19 ◽

Cited By ~ 33

Author(s):

Michaël Grynberg ◽

Maud Bidet ◽

Julie Benard ◽

Marine Poulain ◽

Charlotte Sonigo ◽

...

Keyword(s):

Turner Syndrome ◽

Fertility Preservation

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Aldosterone- and cortisol-co-secreting adrenal tumors: an uneasy sum of well-known parts (review)

Problems of Endocrinology ◽

10.14341/probl10036 ◽

2019 ◽

Vol 65 (2) ◽

pp. 113-123

Author(s):

Boris M. Shifman ◽

Nadezhda M. Platonova ◽

Natalya V. Molashenko ◽

Ekaterina A. Troshina ◽

Natalia Yu. Romanova ◽

...

Keyword(s):

Metabolic Disorders ◽

Cardiovascular Complications ◽

Adrenal Tumors ◽

Venous Sampling ◽

Symptoms Of Depression ◽

Peripheral Plasma ◽

Increased Risk ◽

High Prevalence ◽

Potential Risks ◽

Alternative Test

Primary aldosteronism (PA) is the most common form of secondary arterial hypertension. In patients with PA, more so than in the general population, there is a prevalence of insulin resistance, diabetes mellitus, metabolic syndrome, osteoporosis, and symptoms of depression; these conditions are more likely to manifest a gluco- rather than mineralocorticoid excess. This fact is of particular importance in light of recent studies that have shown that PA is often associated with glucocorticoid excess. Since the first reports of cases of combined secretion of aldosterone and cortisol in 1979, the number of cases of so-called Connshing syndrome has increased. An analysis of data from recent studies suggests that hypercortisolism in PA is closely associated with an increased risk of cardiovascular complications, metabolic disorders and post-surgical adrenal insufficiency. The most important diagnostic problem in adenomas with combined secretion is the risk of false interpretation of the results of adrenal venous sampling (AVS). The indications that suggest aldosterone-and-cortisol-co-producing adenoma are the lack of suppression of cortisol levels following a night test with 1mg of dexamethasone, and an adrenal tumo of over 2.5cm. As an alternative test capable of differentiating this type of tumor, a number of researchers have proposed measuring the level of so-called hybrid steroids in the peripheral plasma and urine. Taking into account the high prevalence and potential risks, ruling out of excess corisol secretion is obligatory in all cases of PA before AVS and when planning surgery.

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Outcomes of Fertility Preservation Consults for Women at Risk for Primary Ovarian Insufficiency Due to History of Cancer Treatment or Mosaic Turner Syndrome

Journal of Adolescent and Young Adult Oncology ◽

10.1089/jayao.2021.0115 ◽

2021 ◽

Author(s):

Nicole D. Ulrich ◽

Nicholas Raja ◽

Erin Ellman ◽

Molly B. Moravek

Keyword(s):

At Risk ◽

Cancer Treatment ◽

Turner Syndrome ◽

Fertility Preservation ◽

Primary Ovarian Insufficiency ◽

Ovarian Insufficiency ◽

History Of ◽

History Of Cancer

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Materno-Fetal Cardiovascular Complications in Turner Syndrome after Oocyte Donation: Insufficient Prepregnancy Screening and Pregnancy Follow-Up Are Associated with Poor Outcome

Endocrinology ◽

10.1210/endo.152.1.9997 ◽

2011 ◽

Vol 152 (1) ◽

pp. 334-335

Author(s):

Nicolas Chevalier ◽

Hélène Letur ◽

Dominique Lelannou ◽

Jeanine Ohl ◽

Dominique Cornet ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

High Risk ◽

Magnetic Resonance ◽

Turner Syndrome ◽

Growth Retardation ◽

Cardiovascular Complications ◽

Fetal Outcome ◽

Oocyte Donation ◽

Resonance Imaging

Context: Recombinant human GH treatment and oocyte donation (OD) have improved the quality of life in women with Turner syndrome (TS). However, life expectancy is reduced, mainly due to cardiovascular complications. Pregnancy may itself increase that risk and be associated with hazardous materno-fetal outcome. Objective: The objective of this study was to evaluate the materno-fetal outcome of ongoing pregnancies beyond 20 wk of gestation obtained by OD in TS. Design: This was a multicenter retrospective study including all assisted reproductive technology centers affiliated with the French Study Group for Oocyte Donation. Results: Among 93 patients, only 37.6% were prescreened with echocardiography or thoracic magnetic resonance imaging. Maternal outcome was dominated by 37.8% of pregnancy-associated hypertensive disorders including preeclampsia in 54.8% and severe eclampsia in four patients. Prematurity occurred in 38.3% and was correlated with PAHD (P = 0.01). The frequency of in utero growth retardation was 27.5%. One fetal demise was linked to eclampsia. Two patients died from aortic rupture after cesarean section in a context of aortic root dilatation. Only 40% of pregnancies were associated with an absolutely normal materno-fetal outcome. Conclusions: OD pregnancies in TS who have not been managed following recent specific recommendations were at high risk for maternal death by aortic dissection and for preeclampsia and its complications (fetal distress and in utero growth retardation). These recommendations include previous echocardiography, thoracic magnetic resonance imaging, and overnight blood pressure monitoring associated with a tight follow-up during pregnancy. Until future assessment of these recent recommendations, pregnancies obtained in TS after OD must be still considered as very high-risk pregnancies.

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