A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue

Acar, Sezer; ERBAŞ, İBRAHİM; Paketci, Ahu; Onay, Huseyin; ÇANKAYA, TUFAN; Gursoy, SEMRA; ÖZHAN, BAYRAM; ABACI, AYHAN; ÖZER, ERDENER; OLGUNER, MUSTAFA; BÖBER, ECE; DEMİR, KORCAN

doi:10.24953/turkjped.2020.05.015

A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue

Acar S., ERBAŞ İ. M., Paketci A., Onay H., ÇANKAYA T., Gursoy S., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.62, sa.5, ss.826-830, 2020 (SCI-Expanded, Scopus, TRDizin)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 62 Sayı: 5
Basım Tarihi: 2020
Doi Numarası: 10.24953/turkjped.2020.05.015
Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
Sayfa Sayıları: ss.826-830
Anahtar Kelimeler: disorders of sex development, p450 oxidoreductase deficiency, clitoromegaly, hirsutism, ambiguous genitalia, MUTATION, GENE, PHENOTYPES, INFANCY
Dokuz Eylül Üniversitesi Adresli: Evet

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.