Objective: To report the clinical, hormonal, and histopathological features of a woman with ovarian resistance to LH.
Design: Clinical study.
Setting: University hospital.
Patient(s): A woman with amenorrhea, sister of a patient with male pseudohermaphroditism due to Leydig cell hypoplasia.
Intervention(s): Blood drawing before and after GnRH stimulation and also after dexamethasone and hCG administration, pelvic ultrasound, and ovarian biopsy.
Main outcome measure(s): Karyotype, gonadotropin and steroid measurements, follicular diameter, ovarian histology, and sequencing of the LH receptor gene.
Result(s): Patient had normal female external genitalia, normal breast development at puberty, rare episodes of vaginal bleeding, and infertility. The karyotype was 46,XX. She had elevated serum LH levels, whereas E2 and P concentrations were in the range seen in the early follicular phase. Pelvic ultrasound revealed a slightly hypoplastic uterus and enlarged polycystic ovaries. A normal follicular reserve for age, antral follicles, and absence of corpora lutea or albicans were observed on ovarian biopsy. Exon 11 of the LH receptor gene had a normal sequence.
Conclusion(s): In our patient with ovarian resistance to LH, FSH stimulated follicular development until the preovulatory stage, but E2 levels remained in the early follicular phase range, still sufficient for normal pubertal feminization. Apparently, LH is necessary for ovulation and corpus luteum formation.