A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect

Abstract

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. Conflict of interest:None declared.

Huge ovarian cyst in a neonate with classical 21-hydroxylase deficiency

“…Reports on the association between classical saltwasting CAH and enlarged ovarian cysts are exceedingly rare and, to the best of our knowledge, only five such cases have been discussed in the English literature (3,(6)(7)(8)(9). The exact mechanism is not yet fully understood; however, it is likely that the highly-elevated levels of fetal androgens seen in CAH patients (which are consistent with our findings) play a role in cyst formation.…”

“…Nevertheless, the development of huge ovarian cysts in the neonatal period has rarely been reported. To the best of our knowledge, only five cases have been reported in the English literature (3). Although the exact mechanism of development of these cysts remains unknown, it is thought that the increased level of androgens encountered in CAH could stimulate ovarian follicle development by increasing the expression of follicle-stimulating hormone receptor (FSHR) (4).…”

Yenidoğan döneminde geçici endokrin sorunlar

“…Cysts form with the mutual contribution of maternal estrogen, placental human chorionic gonadotropin (hCG), and fetal gonadotropins (32). Ovarian cysts are observed in cases of CAH and hypothyroidism (33, 34). Small follicular cysts are found in 90–98% of cases.…”

High-Dose Hook Effect in 17-Hydroxyprogesterone Assay in a Patient with 21-Hydroxylase Deficiency

“…This is called high- dose hook effect ( 3 ). It is well-known that the high-dose hook effect may give falsely low results for several hormones such as prolactin ( 4 ), growth hormone ( 5 ), thyroid stimulating hormone (TSH) ( 6 ), thyroglobulin ( 7 ), gonadotropins [luteinizing hormone (LH) and follicle-stimulating hormone (FSH)] ( 8 ), testosterone ( 9 ), human chorionic gonadotropin (hCG) ( 10 ), calcitonin ( 11 ), and aldosterone ( 12 ), however, it has never been described for 17-hydroxyprogesterone (17-OHP).…”