Primary Amenorrhea in an Adolescent Secondary to a Virilizing Luteinized Thecoma of the Ovary

Abstract

16 months later she presented to pediatric endocrinology with 4 more episodes of vaginal bleeding at 1-3 month intervals. No leucorrhea, pubic hair or breast developmentwas noted. Onphysical examherheight velocity was 11.6 cm/year, she had diffuse hypotonia, and a normal palpable thyroid. Sparse fine dark hair was noted in the axilla. Breasts and pubic hair were Tanner I, hymenwas intact, and the vaginal mucosa appeared estrogenized. Laboratory studies showed LH 45.31 IU/L, FSH 89.69 IU/L, estradiol<20 pg/ mL, and normal thyroid function tests. Ultrasound showed a peripubertal uterine configuration measuring 4.6 x 1.5 x 2.6 cm with the fundus larger than the cervix. The right ovarianvolumewas0.5 cc, and the left ovary could not be seen. No adnexal masses were seen. The evidence of chronic estrogen exposure on uterine configuration and elevated gonadotropins to the menopausal range raised concern for precocious puberty followed by impending ovarian failure. A bone agewas performed which was 6 years 10 months suggesting estrogen exposure. 3 months later, she had Tanner II breasts and fine dark hair apparent over the monspubis. Repeat labs showedLH13.50 IU/L, FSH5.20 IU/L, estradiol 275.4 pg/mL, DHEAS 14.4 mcg/dL (normal 5.0-40.0), Prolactin 20.52 ng/mL, and anti-m€ ullerian hormone (AMH)<assay. She had another episode of vaginal bleeding. Given evidence of central precocious puberty, a luteinizinghormone-releasing hormone agonist (histrelin acetate implant) was placed. 2 months after the implant no further vaginal bleeding or progression of breast development was noted and laboratories confirmed gonadotropin suppression (LH 0.92 IU/L, FSH 2.9 IU/L, Estradiol<20pg/mL). Comments: This case illustrates the rare association of precocious puberty with ovarian failure and describes elevated gonadotropins early in life. In addition, it demonstrates the utility of AMH in diagnosing diminished ovarian reserve because of the inter and intra cycle variability of FSH.