Amenorrhoea in Cystic Fibrosis

Abstract

Menstrual history in relation to nutritional status and lung function was assessed in 45 adolescent and adult patients with cystic fibrosis (CF). Twenty patients had regular menstrual cycles (of whom six had been pregnant), 12 had primary or secondary amenorrhoea, 11 had irregular cycles and two were premenarcheal. Patients with regular menstruation had a significantly higher body mass index and percentage body fat (estimated from skinfold thickness measurements) than those with amenorrhoea (P less than 0.001), and also better lung function (P less than 0.01). A linear discriminant analysis indicated that of the four indices studied percentage body fat was the most important predictor of menstrual function. Ovarian and uterine morphology were studied by ultrasonography in 28 patients and 17 healthy controls. In 10 patients multicystic ovaries were noted. Even in patients with regular cycles uterine size was reduced (P less than 0.01) and in those with amenorrhoea appeared to be related to thinness. Amenorrhoea in CF is an appropriate adaptive response in preventing pregnancy, but the resultant oestrogen deficiency and psychological effects must be considered.

Age of menarche in girls with cystic fibrosis.

“…In girls with cystic fibrosis, hormonal imbalances tend to occur significantly more often than in the healthy population, resulting in irregular menstrual cycles and leading to the development of Polycystic Ovary Syndrome (PCOS) [20,32,39]. In the hormonal profile of 18 menstruating girls with cystic fibrosis aged from 12 through 23, increased levels of LH, FSH/LH and prolactin (PRL), as well as decreased level of SHBG (sex hormone-binding globulin) were observed [32].…”

Defective CFTR-regulated granulosa cell proliferation in polycystic ovarian syndrome

“…Women with cystic fibrosis (CF), the most common genetic disease in Caucasians caused by mutations of CFTR , Riordan et al 1989, also exhibit delayed puberty, anovulation, oligoovulation, amenorrhea (Stead et al 1987, Aswani et al 2003, cystic ovaries, and abnormal hormone levels similar to that observed in PCOS women (Shawker et al 1983). Although CFTR has been demonstrated to be expressed in the female reproductive tract, including the ovary (Trezise et al 1993, Chan et al 2002, and involved in uterine HCO 3 K secretion (Wang et al 2003) and HCO 3 K transport that is required for sperm capacitation (Xu et al 2007, Chen et al 2012a, the role of CFTR in ovarian function remained unknown for a long time.…”

Cystic Fibrosis and Infertility

“…The difference observed in the insulin pattern in the pathological OGTT group might alter ovarian function and thereby cause further delay in sexual maturation (Johannesson et al, 1998). Polycystic ovaries were also described in CF women (Stead et al, 1987).…”

“…CFTR is expressed throughout the female reproductive tract in the cervix, oviduct, ovary, and uterus (Chan et al, 2002;Tizzano et al, 1994). CF has been associated with menstrual irregularities, including amenorrhea, irregular cycles, anovulation, smaller uteri, and delayed puberty (Johannesson et al, 1998;Stead et al, 1987). The absence of obvious anatomical abnormalities in the female reproductive tract -except for thick and tenacious cervical mucus with altered water and electrolyte content (Kopito et al, 1973) -has led to the general belief that abnormal mucus contributes to the reduced fertility of CF women by acting as a barrier to sperm passage (Chan et al, 2009).…”

“…Interestingly, abnormalities in the reproductive endocrine axis have been viewed as an indirect consequence of CF, though they have been largely ignored as possible contributors to observed female infertility (Stead et al, 1987). CFTR expression was found in the areas of the rat hypothalamus (thalamus and amygdale) which are involved in the regulation of sexual maturation and reproduction.…”