Karyotype is associated with timing of ovarian failure in women with Turner syndrome
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Victoria W. Fitz
,
Jennifer R. Law
Abstract
Objective
To characterize the age of ovarian failure in Turner Syndrome (TS) patients by karyotype.
Methods
Retrospective cohort study of individuals with TS at an academic university hospital. Subjects were seen in TS Clinic at UNC Hospital between 2014 and 2018. Individuals were analyzed by karyotype category (45X, 45X/46XX mosaicism, miscellaneous) and percentage of 45X cells. Age at follicle-stimulating hormone> 30 was defined as the age at loss of ovarian function.
Results
A total of 79 patients were identified after excluding individuals with unknown ovarian function and those with Y chromosome material. Thirty-eight percent were 45X monosomic, 62% were 45X/46XX mosaic or miscellaneous karyotypes. Fifty-five of 79 (70%) patients had evidence of ovarian failure, median age of failure 11 years (IQR: 4,12). Ovarian failure was more prevalent among individuals with 45X karyotype (100%). The median age of ovarian failure for 45X patients (n=30) was 10 years old, which is significantly younger than other karyotypes (n=49), with a median of 15 years, p<0.01. Linear regression analysis found that 1 percentage point increase in 45X cells in the peripheral karyotype is associated with a 0.09 year decrease in age of ovarian failure (p value=0.01). Only 9% of individuals were referred for fertility counseling.
Conclusions
There is a lower prevalence of ovarian failure among individuals with mosaic TS karyotypes, and referral rate for fertility counseling of patients with TS is low. These findings are in line with published literature. The finding that percentage of 45X cells in peripheral karyotype is associated with earlier age of ovarian failure is novel and warrants further investigation in a larger prospective cohort.
Research funding: None declared.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: Authors state no conflict of interest.
Ethical approval: This is a retrospective cohort study approved by the University of North Carolina Institutional Review Board (Study No. 18-1568). Primary data for human nor for animals were not collected for this research work.
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Supplementary Material
The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2020-0304).
© 2021 Walter de Gruyter GmbH, Berlin/Boston
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Artikel in diesem Heft
- Frontmatter
- Review Article
- Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches
- Original Articles
- Evaluation of hydration status of children with obesity—a pilot study
- Relationship between insulin-like growth factor-1, insulin resistance and metabolic profile with pre-obesity and obesity in children
- Evaluation of Hemoglobin A1c before and after initiation of continuous glucose monitoring in children with type 1 diabetes mellitus
- Karyotype is associated with timing of ovarian failure in women with Turner syndrome
- The role of makorin ring finger protein-3, kisspeptin, and neurokinin B in the physiology of minipuberty
- Brain MRIs may be of low value in most children diagnosed with isolated growth hormone deficiency
- Significant improvement in bone mineral density in pediatric celiac disease: even at six months with gluten-free diet
- Population-based waist circumference reference values in Japanese children (0–6 years): comparisons with Dutch, Swedish and Turkish preschool children
- Extended growth charts for Indian children
- Rib fractures in infancy, case-series and register case-control study from Sweden
- Gonadotropin releasing hormone analogue therapy in girls with idiopathic precocious puberty/early-fast puberty: dynamics in adiposity indices, eating habits and quality of life
- Case Reports
- Transient benign hyperphosphatasemia due to COVID-19: the first case report
- ATP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis
- IgG4-related hypophysitis in adolescence
- Graves’ disease in a five-month-old boy with an unusual treatment course
- Oral sodium phenylbutyrate for hyperammonemia associated with congenital portosystemic shunt: a case report
- Severe multisystem organ dysfunction in an adolescent with simultaneous presentation of Addison’s and Graves’ disease
