Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?
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Stephanie Yeager
und
Bina Shah
Abstract
Context
Preimplantation genetic diagnosis (PGD) is currently used for over 400 monogenic diseases. Some endocrine conditions that occur due to monogenic defects are either life-threatening or can cause severe morbidities; thus, PGD may be an option to avoid the occurrence of such diseases.
Evidence acquisition
An initial search in PubMed/Medline search was done to identify monogenic endocrine conditions using appropriate search terms. Eleven articles (1999–2018) reported 15 cases using PGD for monogenic endocrine diseases performed at major reproductive centers. Clinical and outcome data of these cases were reviewed with respect to the number of PGD cycles, successful pregnancy rates, live births and their genetic status.
Evidence synthesis
Fifteen couples underwent 32 PGD cycles (one to nine per couple), of which 17 resulted in a pregnancy. Seven couples underwent a single PGD cycle. Four couples had successful pregnancies each resulting in live births, one couple had an unsuccessful pregnancy, one needed medical termination of pregnancy and the outcome data were not reported in one. The remaining eight couples underwent multiple PGD cycles (two to nine per couple) and all had successful pregnancies in at least one cycle resulting in 16 live births. Of the total live births, 60% were genetically unaffected and 40% were carriers of the autosomal recessive gene mutation.
Conclusions
PGD may be a potential tool for preventing the inheritance of severe monogenic endocrine diseases in future generations. Currently, the use of PGD in endocrine disorders is rare but provides a promising option on a case-by-case basis, provided the optimal resources are available.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Ethical statement: Primary data for human nor for animals were not collected for this research work.
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©2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Mini Review
- Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?
- Original Articles
- The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia
- 3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
- Long non-coding RNA HCP5 serves as a ceRNA sponging miR-17-5p and miR-27a/b to regulate the pathogenesis of childhood obesity via the MAPK signaling pathway
- Once-weekly supervised combined training improves neurocognitive and psychobehavioral outcomes in young patients with type 1 diabetes mellitus
- Associations between thyroid-stimulating hormone, blood pressure and adiponectin are attenuated in children and adolescents with overweight or obesity
- Mental health of both child and parents plays a larger role in the health-related quality of life of obese and overweight children
- Near final adult height, and body mass index in overweight/obese and normal-weight children with idiopathic central precocious puberty and treated with gonadotropin-releasing hormone analogs
- Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa
- Case Reports
- Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family
- Infantile cerebral infarction caused by severe diabetic ketoacidosis in new-onset type 1 diabetes mellitus
- Gallstone formation due to rapid weight loss through hyperthyroidism
- A neonate with mucolipidosis II and transient secondary hyperparathyroidism
- Zoledronate-responsive calcitriol-mediated hypercalcemia in a 5-year-old case with squamous cell carcinoma on the background of xeroderma pigmentosum
Artikel in diesem Heft
- Frontmatter
- Mini Review
- Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?
- Original Articles
- The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia
- 3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
- Long non-coding RNA HCP5 serves as a ceRNA sponging miR-17-5p and miR-27a/b to regulate the pathogenesis of childhood obesity via the MAPK signaling pathway
- Once-weekly supervised combined training improves neurocognitive and psychobehavioral outcomes in young patients with type 1 diabetes mellitus
- Associations between thyroid-stimulating hormone, blood pressure and adiponectin are attenuated in children and adolescents with overweight or obesity
- Mental health of both child and parents plays a larger role in the health-related quality of life of obese and overweight children
- Near final adult height, and body mass index in overweight/obese and normal-weight children with idiopathic central precocious puberty and treated with gonadotropin-releasing hormone analogs
- Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa
- Case Reports
- Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family
- Infantile cerebral infarction caused by severe diabetic ketoacidosis in new-onset type 1 diabetes mellitus
- Gallstone formation due to rapid weight loss through hyperthyroidism
- A neonate with mucolipidosis II and transient secondary hyperparathyroidism
- Zoledronate-responsive calcitriol-mediated hypercalcemia in a 5-year-old case with squamous cell carcinoma on the background of xeroderma pigmentosum
