A giant ovarian cyst in a neonate with classical  21-hydroxylase deficiency with very high testosterone levels demonstrating a high-dose hook effect.
Congenital adrenal hyperplasia (CAH) is a group of disorders affecting the adrenal steroid synthesis. The most common form, 21-hydroxylase deficiency (21-OHD), leads to decreased production of cortisol and aldosterone with increased androgen secretion. In classic CAH, glucocorticoid treatment can be life-saving and serves to bring the symptoms under control. However, the treatment challenge is to effectively control the excess androgen effect by using the lowest possible glucocorticoid dose. Previous studies suggested a relationship between ovarian cyst formation and adrenal androgen excess, but neonatal large ovarian cysts have been very rarely reported in newborns with CAH. Here, we present the unique case of a neonate with classical 21-OHD who underwent surgery for a giant (10x8x7 cm) unilateral solitary ovarian follicular cyst on the 2nd postnatal day. Hormonal evaluation of the patient revealed high-dose hook effect for serum testosterone levels for the first time by a two-site immunoradiometric assay. Possible mechanisms by which androgen excess may cause ovarian cyst formation are discussed.
Marmara University, Pediatric Endocrinology and Diabetes, İstanbul, Turkey. tulayguran@yahoo.com
Tülay
T
Güran
Gözde
G
Yeşil
Ömer
Ö
Güran
Suna
S
Cesur
Oktav
O
Bosnalı
Ayşenur
A
Celayir
Sevilay
S
Topçuoğlu
Abdullah
A
Bereket
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications*; D005260:Female; D005497:Follicular Cyst / Q000097:blood / Q000150:complications / Q000473:pathology / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D010048:Ovarian Cysts / Q000097:blood / Q000150:complications* / Q000473:pathology / Q000601:surgery; D013739:Testosterone / Q000097:blood*; D014102:Torsion Abnormality / Q000097:blood / Q000150:complications / Q000473:pathology / Q000601:surgery; D047368:Tumor Burden
D013739:Testosterone