Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications for genetic counseling and clinical practice. In the course of treating a female with pubertal delay and hypergonadotropic hypogonadism, we identified a new missense mutation in the SRY gene, lea...

A patient with 17a-hydroxylase deficiency (170HD) who continued to menstruate is reported. A 24-year-old woman who presented with hypertension, hypokalemia and irregular menses had increased plasma ACTH and mineralocorticoids without any increase in glucocorticoids or sex steroids, and a bilateral adrenal enlargement on abdominal X-ray CT. ACTH stimulation test revealed hyperresponse of the met...

BACKGROUND Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40, representing one major cause of female infertility. Mutations in bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) have been shown to be associated with POF. METHODS Genomic DNA was isolated from 52 idiopathic premat...

Monozygotic 24-year-old twins presented with discordant ovarian function. One had had premature ovarian failure at the age of 14 years, whereas her sister had normal ovaries and three naturally conceived children. After unsuccessful egg-donation therapy, the sterile twin received a transplant of ovarian cortical tissue from her sister by means of a minilaparotomy. Within three months after tran...

Gynaecography-the radiological visualization of the internal female genitalia after pneumoperitoneum-is a safe and simple procedure. When taken in conjunction with the clinical and laboratory findings the results of gynaecography are often a sufficient basis for diagnosis and a plan of management in women presenting with menstrual irregularity or infertility.

BACKGROUND Ovarian failure has been reported to occur in female cancer survivors who had received spinal radiation as children. We aimed to determine whether laparoscopic unilateral oophoropexy prior to radiotherapy effectively preserves ovarian function. METHODS In a retrospective analysis, the study group comprised girls, aged 18 and younger, who received spinal irradiation for a brain tumo...

BACKGROUND Despite interest in ovarian tissue transplantation (OTT) as a promising procedure for fertility preservation, to date, no precise data are available about its effectiveness. We systematically reviewed reproductive function after OTT for fertility preservation in women at high risk of premature ovarian failure (POF). METHODS We searched the MEDLINE, EMBASE, Cochrane Systematic Revie...

This short communication describes the delayed onset of premature ovarian failure (POF) in some young patients, between 5 to 24 months after operative laparoscopy for ovarian endometriosis. This complication apparently does not have a link with traditional risk factors for POF. In view of this observation, further and consistent clinical investigations are necessary to seek an explanation for t...

The aim of this study was to trigger the expression of genes related to oocytes in putative ovarian stem cells scraped from the ovarian surface epithelium of women with premature ovarian failure and cultured in vitro in the presence of follicular fluid, rich in substances for oocyte growth and maturation. Ovarian surface epithelium was scraped and cell cultures were set up by scrapings in five ...