Endocrine Abstracts

The identification of naturally occurring genetic mutations of the FSH receptor has led to a better understanding of the role of FSH in folliculogenesis and has allowed to identify the cause of several syndroms. Inactivating mutations of the follicle stimulating hormone (FSH) receptor have been described in rare cases of premature ovarian failure (POF). We have studied a new patient presenting a complete POF phenotype, with high plasma FSH levels, very low estrogen and inhibin...

A 20 yr old woman was referred for primary amenorrhea. At examination BMI was 19 and displayed a pubertal development at S4P4. Hormonal evaluation showed normal prolactin, low estradiol (18 pg/ml) and gonadotropins (LH=1.5IU; FSH=1.9 IU/L). Testosterone was normal (0.25 ng/ml) but curiously plasma progesterone (P) was increased (from 3.9 to 5 ng/ml). Initial ovarian sonography and adrenal CT scan didn’t show any abnormal mass. ACTH stimulation tests showed normal response...