Menstrual bleeding in a female infant with congenital adrenal hyperplasia: altered maturation of the hypothalamic-pituitary-ovarian axis.
Vaginal bleeding during the neonatal period is commonly related to the withdrawal of maternal estrogens. Vaginal bleeding has also been reported in female infants with congenital adrenal hyperplasia and has been proposed to be due to a treatment-induced activation of the hypothalamic-pituitary-ovarian axis. We report a female infant with the salt-losing form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, who had the onset of vaginal bleeding at 3 months of life. Adrenal steroid suppression had been achieved by 2.5 weeks of age. At the time of bleeding, imaging studies revealed an enlarged right ovary with a dominant 3-cm cyst and additional small cysts that had not been seen on the newborn sonogram. The uterus was enlarged and stimulated. Three weeks later (1 week after the cessation of bleeding), repeat ultrasound demonstrated a marked decrease in the size of the right ovary, and the dominant cyst was no longer seen. The patient had a heightened FSH response to GnRH and elevated levels of estradiol for age. At 5 months of age, no further episodes of sustained vaginal bleeding were observed. Repeat hormonal levels were prepubertal, and pelvic sonogram demonstrated no evidence of stimulation. The findings in our patient suggest that a decline in adrenal androgens after glucocorticoid treatment resulted in an increase in gonadotropin levels, which then triggered a transient and augmented end-organ response (menses). Further, we suggest that our infant's hormonal findings may reflect a delay in the timely development of the negative restraint by sex steroids on gonadotropins that is normally observed in infancy.
Uli
N
N
Department of Pediatrics, New York University Medical Center, New York 10016, USA.
Chin
D
D
David
R
R
Geneiser
N
N
Roche
K
K
Marino
F
F
Shapiro
E
E
Prasad
K
K
Oberfield
S
S
D000312:Adrenal Hyperplasia, Congenital / Q000503:physiopathology*; D005260:Female; D005836:Genitalia, Female / Q000000981:diagnostic imaging / Q000473:pathology; D006728:Hormones / Q000097:blood; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000254:growth & development*; D007223:Infant; D008279:Magnetic Resonance Imaging; D008598:Menstruation / Q000502:physiology*; D010048:Ovarian Cysts / Q000150:complications / Q000175:diagnosis; D010053:Ovary / Q000254:growth & development*; D010388:Pelvis / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography
D006728:Hormones