Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia

Abstract

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, characterized by lack of synthesis of all gonadal and adrenal steroid hormones. Ovarian cysts can develop as complications of CLAH. However, the precise mechanism of development and natural history of such cysts in patients with CLAH have not yet been determined. We recently treated a 14-year-old female patient with CLAH and ovarian cyst torsion. As a neonate, she presented with vomiting, skin pigmentation, and electrolyte imbalance. At that time, her serum adrenocorticotropic hormone concentration was elevated, while 17-hydroxypregnenolone level was normal, as were her normal female external genitalia. Mutation analysis showed that she was homozygous for p.Q258X in the StAR gene. She underwent spontaneous puberty and menstruation. At 14 years of age, she received salpingo-oophorectomy because of ovarian cyst torsion presenting as acute pelvic pain. Ovarian cysts are important clinical manifestations in 46,XX patients with CLAH, although onset time and severity can vary depending on individuals. Thus, patients with CLAH should be carefully monitored for ovarian complications to preserve as much ovarian function as possible.

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.…”

“…We believe this to be the sixth case of congenital adrenal hyperplasia accompanied by a huge ovarian cyst in the neonatal period in the scientific literature. Of these, three presented with the classical salt-wasting 21-OHD (3,7,9), one with 11ß-hydroxylase deficiency (6), and one with congenital lipoid adrenal hyperplasia, which is considered the most severe form of congenital adrenal hyperplasia (8). Bilaterality was reported in two cases (6,7).…”

Congenital adrenal hyperplasia

“…101,102 Patients with POR, StAR, and CYP17A1 mutations may also have ovarian cysts and ovarian cyst torsion. [103][104][105] In the virilizing forms of CAH, excess adrenal sex steroids can lead to hypogonadotropic hypogonadism 106,107 and increased progesterone can interfere with endometrial implantation. 108,109 This may resolve with optimizing glucocorticoid management and suppression of follicular phase progesterone enhances the likelihood of ovulation and subsequent conception.…”

High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia

“…Spontaneous menarche occurred in these patients at the age of 12.9 and 15.8 years respectively. Ovarian cyst torsion occurred at the age of 14 years in subject 1, who received a laparoscopic left salpingo-oophorectomy at the age of 14 years (13). Subject 14 died of adrenal crisis at the age of 2 months due to poor adherence to medication.…”