In a sample of post-menopausal premutation carrier mothers of children with the full mutation of fragile X syndrome (n = 88), this study examined the co-occurrence of the reproductive and psychiatric phenotypes associated with FMR1 premutations. Mean age at menopause was 43.1 years, and 35.2% of premutation carriers reported cessation of menses prior to age 40 (premature ovarian failure), but o...

BACKGROUND AND OBJECTIVE Mutations in bone morphogenic protein 15 (BMP15) and growth/differentiation factor 9 (GDF9) lead to altered fertility in animal models. In the human, a heterozygous point mutation of BMP15 has been associated with premature ovarian failure (POF). SUBJECT AND METHODS We have directly sequenced both genes in a cohort of 203 POF patients presenting with primary or second...

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The origin of the isolated secondary adrenal insufficiency is unknown in most cases. An observation of a group of over 100 patients with secondary adrenal insufficiency and coexisting autoimmune abnormalities suggests that autoimmunity could be a frequent cause of idiopathic secondary failure, similarly as in Addison's disease. We studied 176 patients with idiopathic isolated secondary adrenal ...