Aromatase deficiency should also be considered even if the initial follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels are normal, and ovarian cysts are lacking.
📌 3 Key Takeaways
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Objective & Hypothesis:Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease.
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Key Findings & Data:It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts.Case.
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Conclusion & Impact:Aromatase deficiency should also be considered even if the initial follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels are normal, and ovarian cysts are lacking.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Özet
Background. Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts.Case. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous variant in CYP19A1 [IVS10 + 1 G> A; c.344 G> A (p.R115Q)], with normal gonadotropin levels at the time of admission and histologically normal ovarian tissues.Conclusion. Aromatase deficiency should also be considered even if the initial follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels are normal, and ovarian cysts are lacking.
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Cite This Article
ACAR, S., ACAR, S., PAKETÇİ, A., ONAY, H., ÇANKAYA, T., GÜRSOY, S., ÖZHAN, B., ABACI, A., ÖZER, E., OLGUNER, M., BÖBER, E., DEMİR, K. (2020). A novel compound heterozygous variant in CYP19A1resulting in aromatase deficiency with normal ovarian tissue. Turkish Journal of Pediatrics, Cilt: 62 - Sayı: 5, 826–830. https://ajindex.com/articles/411811
Belgorosky A, Guercio G, Pepe C, Saraco N, Rivarola MA. Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence. Horm Res 2009
Shozu M, Akasofu K, Harada T, Kubota Y. A new cause of female pseudohermaphroditism: placental aromatase deficiency. J Clin Endocrinol Metab 1991
Fisher CR, Graves KH, Parlow AF, Simpson ER. Characterization of mice deficient in aromatase (ArKO) because of targeted disruption of the cyp19 gene. Proc Natl Acad Sci USA 1998
Gagliardi L, Scott HS, Feng J, Torpy DJ. A case of aromatase deficiency due to a novel CYP19A1 mutation. BMC Endocr Disord 2014
Akçurin S, Türkkahraman D, Kim WY, Durmaz E, Shin JG, Lee SJ. A novel null mutation in P450 aromatase gene (CYP19A1) associated with development of hypoplastic ovaries in Humans. J Clin Res Pediatr Endocrinol 2016
Unal E, Yıldırım R, Taş FF, Demir V, Onay H, Haspolat YK. Aromatase deficiency due to a novel mutation in CYP19A1 gene. J Clin Res Pediatr Endocrinol 2018
Ozen S, Atik T, Korkmaz O, et al. Aromatase deficiency in two siblings with 46, XX karyotype raised as different genders: a novel mutation (p.R115X) in CYP19A1 gene. J Clin Res Pediatr Endocrinol 2020
Belgorosky A, Pepe C, Marino R, et al. Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene. J Clin Endocrinol Metab 2003
Lin L, Ercan O, Raza J, et al. Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. J Clin Endocrinol Metab 2007
Conte FA, Grumbach MM, Ito Y, Fisher CR, Simpson ER. A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metab 1994
Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab 1995
León NY, Reyes AP, Harley VR. A clinical algorithm to diagnose differences of sex development. Lancet Diabetes Endocrinol 2019