Aromatase deficiency in an Ontario Old Order Mennonite family
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Sun Young Kim
Abstract
Objectives
Aromatase deficiency is a rare autosomal recessive disease that results in the absence of aromatase. In females it presents with ambiguous genitalia and lack of secondary sexual characteristics during puberty. Aromatase deficiency is not attributed to any specific population, but it is more commonly seen in consanguineous parents. Herein, we report the first Old Order Mennonite family with that diagnosis.
Case presentation
Our proband is an Old Order Mennonite female born with ambiguous genitalia who was identified to carry novel homozygous variant in the CYP19A1 gene c.1304G>A (p. Arg435His). Her older brother was later confirmed with the same genetic diagnosis.
Conclusions
Recognizing the cultural sensitivity, unrecognized affected cases, and late presentation of males affected with aromatase deficiency, this condition may be more prevalent than believed in that population.
Acknowledgments
We thank the family members who participated in this case study.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from the family.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
References
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
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Artikel in diesem Heft
- Frontmatter
- Review Article
- Calcitonin and complementary biomarkers in the diagnosis of hereditary medullary thyroid carcinoma in children and adolescents
- Original Articles
- Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review
- Questioning the adequacy of standardized vitamin D supplementation protocol in very low birth weight infants: a prospective cohort study
- Growth hormone replacement therapy: is it safe to use in children with asymptomatic pituitary lesions?
- Comparing adolescent self staging of pubertal development with hormone biomarkers
- Reverse circadian glucocorticoid treatment in prepubertal children with congenital adrenal hyperplasia
- The concordance between ultrasonographic stage of breast and Tanner stage of breast for overweight and obese girls: a school population-based study
- Cross-sectional analysis: clinical presentation of children with persistently low ALP levels
- The utility of continuous glucose monitoring systems in the management of children with persistent hypoglycaemia
- Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation
- Role of magnetic resonance diffusion weighted imaging in diagnosis of diabetic nephropathy in children living with type 1 diabetes mellitus
- Investigation of quality of life in obese adolescents: the effect of psychiatric symptoms of obese adolescent and/or mother on quality of life
- Predictive value of WHO vs. IAP BMI charts for identification of metabolic risk in Indian children and adolescents
- Case Reports
- COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1
- Aromatase deficiency in an Ontario Old Order Mennonite family
- A case of monogenic diabetes mellitus caused by a novel heterozygous RFX6 nonsense mutation in a 14-year-old girl
