Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency

Mnif, Mouna; Kamoun, Mahdi; Kacem, F. Hadj; Mnif, F.; Charfi, Nadia; Naceur, B. Ben; Rekik, N.; Abid, M.

doi:10.4103/2230-8210.117196

Cited by 16 publications

(7 citation statements)

References 34 publications

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“…Mansourian [ 30 ] and Mnif et al . [ 11 ] found that pathologic hormonal profiles of women with hyper- and hypothyroidism often result in abortions, low birth weight and premature labor. In our study, we did not find any association between mutations in the CYP21A2 gene and the presence of thyroid disease.…”

Section: Discussionmentioning

confidence: 99%

“…Adrenal androgens directly inhibit aromatase activity in granulosa cells of the ovary, thus indirectly hindering foliculogenesis. The high androgen levels result in gonadotropin-releasing hormone (GnRH), inhibition, leading to anovulation [ 10 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

“…Thankfully, with glucocorticoid replacement therapy of patients with classical CAH, females mature into adults, so the focus has shifted to infertility treatment [ 2 ]. These patients suffer not only from salt wasting, they also have concomitant excessive androgens, excessive progesterone, post-reconstructive surgery states, PCOS, ovarian adrenal rest tumors and various psychosexual factors [ 1 , 5 , 11 - 14 ].…”

Section: Introductionmentioning

confidence: 99%

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Detection of mutations in theCYP21A2gene: genotype-phenotype correlation in Slovenian couples with conceiving problems

Herodež

Fijavž

Zagradišnik

et al. 2015

Balkan Journal of Medical Genetics

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The objective of this study was to compare the CYP 21A2 genetic profiles of couples with unexplained fertility problems (UFP) with genetic profiles of healthy controls (HCs). Furthermore, we analyzed associations between mutations in the CYP21A2 gene and various clinical and laboratory parameters. Allele-specific polymerase chain reaction (PCR) was used in 638 probands with UFP and 200 HCs. Statistic analysis with χ2 was used to study the association of mutations with infertility. The effect of mutations on particular clinical and laboratory parameters was assessed with the analysis of variance (ANOVA) test. With regard to the CYP21A2 gene, 0.6% of probands with UFP and 0.5% of HCs were positive for the c.290-13A/C>G mutation; 0.6% of probands with UFP and 1.5% of HCs were positive for the p.I172N mutation; there were no probands with UFP positive for the p.P30L mutation, whereas 0.5% of HCs were; and 0.2% of probands with UFP and 0.5% of HCs were found to have the p.V281L mutation. We found a significant association between c.290-13A/C>G mutation and the frequency of significant hormone deviations (χ2 = 6.997, p = 0.008). Similar association was also observed between the c.29013A/C>G mutation and the frequency of polycystic ovary syndrome (PCOS) (χ2 = 16.775, p = 0.000). Our findings indicate that no significant difference in the prevalence of CYP 21A2 mutations can be found in probands with UFP when compared with HCs without infertility history. The results also imply the significant association of the c.290-13A/ C>G mutation in the CYP21A2 gene, not only with the frequency of PCOS, but also with the frequency of significant hormone deviations.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Detection of mutations in theCYP21A2gene: genotype-phenotype correlation in Slovenian couples with conceiving problems

Herodež

Fijavž

Zagradišnik

et al. 2015

Balkan Journal of Medical Genetics

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“…However, the full range of genital anomalies includes complete fusion of the labioscrotal folds and a phallic urethra, partial fusion of the labioscrotal folds, precocious pubarche, clitoromegaly with a shallow vagina, as well as accelerated growth and skeletal maturation [5, 6]. Hirsutism, oligomenorrhea, and infertility are consequences later we face in life [7, 8].…”

Section: Introductionmentioning

confidence: 99%

The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family

2019

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Background The simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder usually caused by steroid 21-hydroxylase deficiency due to I172N missense mutation at the CYP21A2 gene. Clinical presentation encompasses virilization of external genitalia in newborn females and pseudoprecocious puberty in both sexes, due to reactive androgen overproduction. The aim of this study was to present two sisters with an SV form of CAH and distinctive genotype, detected and treated since childhood with a poor compliance and poor metabolic control hindering the fertility. Case presentation We retrospectively reviewed the clinical, biochemical, and molecular data of two sisters with CAH a 46,XX karyotype when they reached an age of 35 and 38 years, respectively, and were attempting conception for several years. They had been diagnosed with SV form of CAH at the age of 7 and 9 years, respectively, by the standard clinical and biochemical procedures, presenting with severe virilization due to androgen excess. Follow-up was performed through standard methods of measurement of 17-OHP, testosterone, and ACTH. Clitoroplasty with vaginoplasty was performed at the age of 18 in the older sister. Using PCR/ACRS, we performed molecular analysis of the nine most common point CYP21A2 mutations in the patients and family members. The P30L/II72N genotype was observed in both sisters. They had inadequate metabolic control due to noncompliance until decision to conceive. IVF was performed three times in the older sister without success. Sufficient follicles were harvested and fertilized; however, the embryos were lost 3–5 days after implantations. The younger sister is preparing for IVF. She underwent follicle harvesting and the embryos were frozen awaiting appropriate hormonal balance for embryo transfer. The I172N mutation in the heterozygote state was observed in their other two sisters, whose fertility was unaffected. Conclusions Despite significant improvements over the last years in achieving fertility in female patients with SV CAH, it is highly dependent upon the severity of virilization and the metabolic control. The role of P30L mutation in infertility and unsuccessfully assisted reproduction remains to be elucidated.

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“…Thus, fertility, rather than pregnancy rates, seems to be reduced compared with the general population. Subfertility in females with classic CAH is due to several contributing factors, including androgen excess, adrenal progesterone hypersecretion, consequences of genital reconstructive surgery, secondary polycystic ovaries syndrome, ovarian adrenal rest tumors, and psychosexual factors (6).…”

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confidence: 99%