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Blepharophimosis-ptosis-epicanthus syndrome (BPES) is a rare genetic condition occurring sporadically and transmitted by autosomal dominant inheritance. Type I BPES is associated with a high incidence of menstrual irregularities and infertility. Its clinical presentation is attributed to either an ovarian resistance to gonadotropins or to a true premature menopause. Two pathophysiological underlying mechanisms have been proposed: one suggests that one or more mechanisms lead to inhibition of early follicular development or follicule atresia. The other raises the possibility that BPES results from microdeletion of genetic material containing at least 2 independent genes. We report a familial case of BPES identified at birth and who required several surgical procedures. Several members of the patient's family are also affected. Early recognition of this condition may allow appropriate counselling and/or treatments including egg donation in case of hypergonadotropic hypogonadism.
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PMID:[Blepharophimosis-ptosis-epicanthus inversus associated with infertility]. 1063 88

The median age at menopause in Western populations of women is approximately 51 years. While very late (i.e., after 54 years) menopause is exceedingly uncommon, a sizeable minority of women experience cessation of ovarian function at or prior to age 45. By convention, menopause that occurs at ages 40-45 is considered "early" and occurs in about 5% of women. Premature ovarian failure (POF) is reserved for the approximately 1% of women who experience hypergonadotropic amenorrhea prior to age 40 years. POF represents the end stage of a variety of disorders that result in the loss of ovarian follicles. Depending upon the age at diagnosis, the probability of a genetic, autoimmune, or idiopathic cause will be more or less likely. Two functioning X chromosomes appear necessary for normal ovarian function. The most obvious genetic cause of POF is Turner Syndrome, in which a complete or near-complete loss of the second X chromosome occurs. Turner Syndrome typically results in the most severe and irreversible POF, often clinically evident prior to menarche. Typically, in Turner Syndrome, menopause precedes menarche, and there is no evidence of ovarian function. However, cases with multiple tissues diagnosed as 45, X have been reported to result in ovarian function and even pregnancy. It is likely that mitigating factors, perhaps autosomal, can modify this most severe and irreversible cause of ovarian failure. Lesser degrees of ovarian failure have also been attributed to partial X chromosome deletions and milder degrees of X chromosome mosaicism. Fragile X syndrome is another example of mild POF that can be linked to disorders of the X chromosome. Other genetic defects are believed to cause POF, yet their prevalence has been difficult to determine. The localization of the gene for the blepharophimosis/ptosis/POF Syndrome has been recently reported, yet this finding has not been seen commonly in POF. Other genetic syndromes including POF await elucidation. Many transgenic "knock-out" animals have been created with deficient ovarian function. Most interesting along these lines is the heterozygous FSH receptor knock-out, which exhibits a reduced follicle reserve and early ovarian depletion. Application of this knowledge and translation of these transgenic experiments into elucidation of clinical disease has been difficult, but represents an area of tremendous potential progress in the understanding of the pathogenesis of POF. Another approach to the genetics of POF has been to examine the genome of affected and unaffected individuals. The genetics appear to differ greatly depending upon the timing of the expression of the POF. For example, women with early menopause are more likely to possess the PVUII polymorphic allele for estrogen receptor alpha. Whether or not this polymorph is more common in women with earlier menopause, i.e., POF, is unclear. Pedigree data indicate that early menopause and premature menopause sort similarly within families. The only difference between women with true POF and those with early menopause may be in the timing of the expression of the syndrome, and not in the genetics. Population genetic approaches analyzing affected and unaffected individuals are underway in several research centers and represent another area of progress. Immune and other, idiopathic causes of POF await further clarification. It is clear that this is an area of great research potential. Understanding how ovaries fail may assist women with this disorder by facilitating the development of novel therapies. Additionally, such information will provide important clues about optimizing ovarian function in individuals without POF who are seeking extension of their reproductive life spans or fertility enhancement by other means.
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PMID:Mechanisms of premature ovarian failure. 1277 39

Menopause is defined by world health organization (WHO) as the permanent cessation of menstruating resulting from a loss of ovarian follicular activity, after one year of amenorrhea. It signifies the last menstrual cycle and the end of women's fertile and reproductive life. The average age for a women to undergo menopause is 51 years; unlike menarche, whose average age has decreased over the past decades, the age of menopause has remained unchanged. We can distinguish: 1) premenopause, the time interval leading up to menopause; 2) climacteric, the time interval between the reproductive e non-reproductive life; 3) premature menopause, that occurs in 1% of women. Menopause can also be induced iatrogenically as a result of surgery, medical therapy, chemotherapy and radiotherapy. Beyond the life the number of oocytes falls until there are no more suitable follicles for reproduction and the menopause ensues. At the same time, the ability of the ovary to produce hormones falls, leading to an increasing pulsatile release of FSH in order to stimulate the ovary to produce oestrogens. Menopause is characterized by different symptoms such as hot flushes, night sweats, dispareunia, prolapse, vulval itching due to vaginal atrophy and dryness, urinary incontinence, dysuria, and also the psychological aspects don't should be underestimated because of many women suffer of depression, mood instability, insomnia, fatigue and decreased libido. Long term symptoms include osteoporosis, cardiovascular and neuro-degenerative diseases. The main aim of different treatments was symptoms relief. Pharmacological agents and psychological support represent the goal for menopause treatment.
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PMID:Hormone replacement therapy in menopause and in premature ovarian insufficiency. 2434 49