Pregnancy and childbirth after a cycle of assisted reproductive technologies in patient with a mutation of fsh receptor gene, secondary amenorrhea, uterine hypoplasia and endometrial receptivity disorders (clinical case)
Keywords:FSH receptor gene mutation, secondary amenorrhea, endometrial receptivity, assisted reproductive technology
Follicle-stimulating hormone (FSH) plays a significant role in folliculogenesis by binding to its receptors located on the surface of the granulosa cells.
Molecular effects of FSH receptor mutation are following. FSH receptor activity is reduced at variant 680Ser, often resulting in women decreased levels of estradiol, progesterone, and inhibin A levels, early growth and increased level of FSH in the luteal phase of the menstrual cycle. Polymorphism of this gene determines the response to ovarian stimulation by FSH drugs. In women with variant 680Ser is often lengthening menstrual cycle by increasing the period from luteolysis to ovulation, that is can impair the response to ovarian stimulation with FSH drugs in vitro fertilization, as well as exacerbate the symptoms of ovarian hyperstimulation syndrome.
This article described the clinical case of successful completion of the pregnancy and birth after controlled ovarian stimulation in a patient 27 years old with a mutation of the FSH receptor gene, secondary amenorrhea, uterus hypoplasia, impaired endometrial receptivity.
In the clinical case described the features of assisted reproductive technology cycles in a patient with secondary amenorrhea, uterus hypoplasia, disorders of endometrial receptivity against the backdrop of the FSH receptor gene mutation, high levels of the anti-Mullerian hormone and ineffective surgery history. Features of controlled ovarian stimulation cycles in this case are a low initial dose of gonadotropin drugs and duration of stimulation (trigger ovulation at the 19 and 22 day of stimulation). Mutation of the FSH gene receptor was accompanied gene polymorphism of folate cycle, blood coagulation, as well as endometrial receptivity decrease and the displacement of implantation window. Taking into account these factors have led to the birth of a boy weighing 3870 g, height 52 cm.
This clinical case demonstrates the need for an individual approach to the management of patients with endocrine disorders.
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Copyright (c) 2015 Т. Ф Татарчук, И. Д. Гюльмамедова, З. И. Россоха, Т. Д. Задорожная, Е. А. Гюльмамедова
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