Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia.
OBJECTIVE
Although ovarian cysts commonly occur in patients with congenital lipoid adrenal hyperplasia (CLAH), the mechanism of development remains to be determined. To clarify the pathogenesis of the ovarian cysts, endocrinological examinations were performed in patients with CLAH.


METHODS
The subjects were three Japanese CLAH patients. Basal body temperature, serum and urinary gonadotropin levels, serum and/or urinary ovarian hormones and mutations of the steroidogenic acute regulatory protein (StAR) gene were examined.


RESULTS
The basal body temperature was not biphasic in any patient. Basal LH levels were high in all CLAH patients and markedly responded to LH-releasing hormone in two patients. Urinary gonadotropin analysis revealed repetitive LH surges in the menstrual cycles of the CLAH patients. No increase in the urinary pregnanediol suggested anovulation in all patients, and bilateral ovarian cysts were found in two of the subjects. Examination of the StAR gene revealed a frameshift mutation 840delA at codon 238, a nonsense mutation Q258X at codon 258, a homozygotic mutation at Q258X, and a compound heterozygotic mutation with 251insG and Q258X.


CONCLUSIONS
We concluded that the development of ovarian cysts may be derived from continued anovulation in CLAH patients. Elevated LH levels may be explained by increased sensitivity of the anterior pituitary to circulating estrogen.
Shima
M
M
Department of Pediatrics, Osaka University, Faculty of Medicine, Yamadaoka, Suita City, Osaka 565-0871, Japan.
Tanae
A
A
Miki
K
K
Katsumata
N
N
Matsumoto
S
S
Nakajima
S
S
Harada
T
T
Shinagawa
T
T
Tanaka
T
T
Okada
S
S
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000150:complications* / Q000652:urine; D003937:Diagnosis, Differential; D015232:Dinoprostone / Q000097:blood / Q000652:urine; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood / Q000652:urine; D012739:Gonadal Steroid Hormones / Q000097:blood* / Q000652:urine*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007986:Luteinizing Hormone / Q000097:blood / Q000652:urine; D010048:Ovarian Cysts / Q000097:blood / Q000175:diagnosis* / Q000209:etiology* / Q000652:urine; D011276:Pregnanediol / Q000097:blood / Q000652:urine; D011627:Puberty / Q000097:blood / Q000652:urine
D012739:Gonadal Steroid Hormones; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D011276:Pregnanediol; D015232:Dinoprostone