Unit:
Κατεύθυνση Έρευνα στην Γυναικεία ΑναπαραγωγήLibrary of the School of Health Sciences
Author:
Chatziaggelou Anastasios
Supervisors info:
Μαστοράκος Γεώργιος, Καθηγητής, Τμήμα Ιατρικής, ΕΚΠΑ
Μίκος Θεμιστοκλής, Επίκουρος Καθηγητής, Τμήμα Ιατρικής, ΑΠΘ
Παπαγιάννη Μαρία, Ακαδημαϊκός Υπότροφος, Τμήμα Ιατρικής, ΑΠΘ
Original Title:
Υποβοηθούμενη αναπαραγωγή στην Συγγενή Υπερπλασία των Επινεφριδίων
Translated title:
Assisted reproduction in congenital adrenal hyperplasia
Summary:
Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by defects of adrenal steroidogenesis. More than 90% of congenital adrenal hyperplasia cases are due to mutations in CYP21A2, the gene encoding the adrenal steroid 21-hydroxylase enzyme (P450c21). This disease is characterized by impaired cortisol and aldosterone production as well as androgen excess. A variant of the CAH is the non-classic type of CAH (NCCAH), usually asymptomatic before the 5th year of age, diagnosed during puberty especially in patients visiting a fertility clinic. NCCAH is characterized mainly by anovulatory cycles and/or high androgen concentrations. Both types of CAH are associated with infertility. Given that the incidence of NCCAH is greater than that of CAH, patients suffering from NCCAH are more often diagnosed for the first time in a fertility clinic. Thus, screening for NCCAH should always be considered. The causes of infertility in CAH patients are multi-factorial including virilization of external genitalia, altered psychosocial development and hormonal disorders. The main challenges encountered in assisted reproduction are the androgen excess-associated anovulatory cycles as well as the increased circulating progesterone concentrations during the follicular phase which impact endometrial receptivity, tubal motility and cervical thickness. Administration of sufficient substitution dose of glucocorticoids usually resolves these problems and leads not only to successful assisted reproduction treatment but also to spontaneous pregnancy. Patients with CAH should be followed by a multidisciplinary team including gynecologist, endocrinologist and pediatrician.
Main subject category:
Health Sciences
Keywords:
Infertility, IVF (In Vitro Fertilization), Congenital adrenal hyperplasia (CAH), Pregnancy, Assisted reproduction (ART)
