فهرست مطالب پروین حکیمی

Turner's syndrome is one of the relatively common chromosomal disorders characterized by the absence of all or part of one sex chromosome, with a prevalence of near one in 2500 live birth females. Most typical clinical characteristics of this syndrome include primary amenorrhea, hypogonadism, short stature, digital anomalies, and low hair line at the back of the neck. A large number of affected individuals have a 45,X monosomy; nevertheless, other structural abnormalities of X chromosome or 45,X with cell line mosaicism can also fulfill the criteria. In the current study we report two turner affected patients with dicentric X making an attempt to explain their phenotypes associated with deleted areas.

The first case was a 13-year old female who had edema and lymphoma during infancy. As she grew up, other symptoms of Turner’s syndrome such as short stature, broad shoulders, widely spaced nipples, short metacarpals, small womb, premature ovarian, and higher levels of FSH, LH, and prolactin were apparent. The second patient was a 12 year-old girl without obvious Turner’s syndrome in her infancy, but during her puberty, she showed short stature, short neck, broad chest, normal womb, premature ovarian, normal LH, and increased levels of FSH and prolactin.

The results of G-banding karyotyping depicted that the first patient had 46,X,dic(X) and she was monosomy for short arm of X chromosome, while the second patient was mosaic 45,X(60%)/46,X,dicX(40%). Considering the areas which have been deleted and also heterogenic phenotypes of each patient, roles of every involved gene in that regains have been regarded. With this regard for the exact detection of deleted areas, fluorescence in situ hybridization (FISH) is recommended. Also, carrier detection of parents with a history of affected child for assessing chromosomal abnormalities with the aim of preventing further affected child during their conception is suggested.

Oral progesterone is recommended as an alternative to gonadotropin-releasing hormone (GnRH) agonists and antagonists to prevent luteinizing hormone (LH) surge in assisted reproductive technology (ART) cycles. However, there are little data regarding its use.

We aimed to compare the effect of oral Utrogestan and Cetrotide (a GnRH antagonist) on preventing LH surge in ART cycles.

In this randomized clinical trial, 100 infertile women undergoing ART who received recombinant follicle-stimulating hormone (FSH) at 150-225 IU/day were randomly assigned to receive either Utrogestan 100 mg twice a day (case group) or GnRH antagonist protocol (control group) from cycle day 3 until the trigger day. Triggering was performed with 10,000 IU hCG) when there were at least three mature follicles. Viable embryos were cryopreserved for transfer in the next cycle for both groups. The number of oocytes retrieved and transfered embryos were compared between groups.

The case group had significantly higher progesterone levels on triggering day, more follicles of >14 mm with higher maturity, and more oocytes retrieved with a higher rate of embryos transferred. A small increase in the pregnancy rate was observed in the case group, with no significant between-group differences. The most important result was the lack of premature LH surge in either group upon serum LH assessment on the triggering day.

Utrogestan is an alternative treatment that could reduce the LH surge rate and increase the ART outcomes including number of oocytes retrieved and transfered embryos compared with GnRH agonists and antagonists.