
DETECTION OF MUTATIONS IN THE CYP21A2 GENE:
GENOTYPE-PHENOTYPE CORRELATION IN
SLOVENIAN COUPLES WITH CONCEIVING PROBLEMS Stangler Herodež Š1,*, Fijavž L2, Zagradišnik B1, Kokalj Vokač N1,2 *Corresponding Author: Dr. Špela Stangler Herodež, Laboratory of Medical Genetics, University Clinical
Centre Maribor, Ljubljanska ulica 5, 2000 Maribor, Slovenia. Tel: +386-2-321-27-37. Fax: +386-2-321-27-55.
E-mail: spela.sh@ukc-mb.si page: 25
|
REFERENCES
1. Kosova G, Scott NM, Niederberger C, Prins GS,
Ober C. Genome-wide association study identifies
candidate genes for male fertility traits in
humans. Am J Hum Genet. 2012; 90(6): 950-961.
2. Barnhart KT. Early pregnancy failure: Beware of
the pitfalls of modern management. Fertil Steril.
2012; 98(5): 1061-1065.
3. Trapp CM, Oberfield SE. Recommendations for
treatment of nonclassic congenital adrenal hyperplasia
(NCCAH): An update. Steroids. 2012;
77(4): 342-346.
4. Sumida C, Kondoh N, Kurajoh M, Koyama H,
Tsutsumi Z, Moriwaki Y, et al. 21-Hydroxylase
deficiency associated with male infertility: Report
of 2 cases with gene analyses. Intern Med.
2011; 50(12): 1317-1321.
5. Haider S, Islam B, D’Atri V, Sgobba M, Poojari
C, Sun L, et al. Structure-phenotype correlations
of human CYP21A2 mutations in congenital
adrenal hyperplasia. Proc Natl Acad Sci USA.
2013; 110(7): 2605-2610.
6. Finkielstain GP, Chen W, Mehta SP, Fujimura
FK, Hanna RM, Van Ryzin C, et al. Comprehensive
genetic analysis of 182 unrelated families
with congenital adrenal hyperplasia due to
21-hydroxylase deficiency. J Clin Endocrinol
Metab. 2011; 96(1): E161-E172.
7. Bidet M, Bellanné Chantelot C, Galand-Portier
MB, Golmard JL, Tardy V, Morel Y, et al. Fertility
in women with nonclassical congenital
adrenal hyperplasia due to 21-hydroxylase deficiency.
J Clin Endocrinol Metab. 2010; 95(3):
1182-1190.
8. Belinda G, Vinay D, Moolechery J, Mathew V,
Anantharaman R, Ayyar V, et al. Congenital adrenal
hyperplasia ‒ Experience from a tertiary
centre in South India. Indian J Endocrinol Metab.
2012; 16(2): S385-S386.
9. Nermoen I, Brønstad I, Fougner KJ, Svartberg J,
Øksnes M, Husebye ES, et al. Genetic, anthropometric
and metabolic features of adult Norwegian
patients with 21-hydroxylase deficiency.
Eur J Endocrinol. 2012; 167(4): 507-516.
10. Knowles RL, Khalid JM, Oerton JM, Hindmarsh
PC, Kelnar CJ, Dezateux C. Late clinical presentation of congenital adrenal hyperplasia in
older children: findings from national paediatric
surveillance. Arch Dis Child. 2014; 99(1): 30-34.
11. Mnif MF, Kamoun M, Kacem FH, Mnif F, Charfi
N, Naceur BB, et al. Reproductive outcomes of
female patients with congenital adrenal hyperplasia
due to 21-hydroxylase defi ciency. Indian
J Endocrinol Metab. 2013; 17(5): 790-793.
12. Falhammar H, Nyström HF, Ekström U, Granberg
S, Wedell A, Thorén M. Fertility, sexuality
and testicular adrenal rest tumors in adult males
with congenital adrenal hyperplasia. Eur J Endocrinol.
2012; 166(3): 441-449.
13. Hall JE, Guyton AC. Guyton and Hall Textbook
of Medical Physiology. Philadelphia, PA: Saunders/
Elsevier, 2011.
14. Borko E, Takač I, But I, Gorišek B, Kralj B.
Gynecology, 1st ed. Maribor, Slovenia: High
School of Nursing Press, 2006.
15. Miller SA, Dykes DD, Polesky HF. A simple
salting out procedure for extracting DNA from
human nucleated cells. Nucleic Acids Res. 1988;
16(3): 1215.
16. New MI, Abraham M, Gonzalez B, Dumic M,
Razzaghy-Azar M, Chitayat D, et al. Genotypephenotype
correlation in 1,507 families with
congenital adrenal hyperplasia owing to 21-hydroxylase
deficiency. Proc Natl Acad Sci USA.
2013; 110(7): 2611-2616.
17. Dolzan V, Stopar-Obreza M, Zerjav-Tansek M,
Breskvar K, Krzisnik C, Battelino T. Mutational
spectrum of congenital adrenal hyperplasia in
Slovenian patients: A novel Ala15Thr mutation
and Pro30Leu within a larger gene conversion
associated with a severe form of the disease. Eur
J Endocrinol. 2003; 149(2): 137-144.
18. Krone N, Rose I, Willis D, Hodson J, Wild SH,
Doherty EJ, et al. Genotype-phenotype correlation
in 153 adult patients with congenital adrenal
hyperplasia due to 21-hydroxylase deficiency:
Analysis of the United Kingdom Congenital adrenal
Hyperplasia Adult Study Executive (Ca-
HASE) cohort. J Clin Endocronol Metab. 2013;
98(2): 346-354.
19. Reichman DE, White PC, New MI, Rosenwaks
Z. Fertility in patients with congenital adrenal
hyperplasia. Fertil Steril. 2014; 101(2): 301-309.
20. Çakir ED, Mutlu FS, Eren E, Paşa AO, Sağlam
H, Tarim O. Testicular adrenal rest tumors in
patients with congenital adrenal hyperplasia. J
Clin Res Pediatr Endocrinol. 2012; 4(2): 94-100.
21. Claahsen-van der Grinten HL, Otten BJ, Hermus
AR, Sweep FC, Hulsbergen-van de Kaa CA. Testicular
adrenal rest tumors in patients with congenital
adrenal hyperplasia can cause severe testicular
damage. Fertil Steril. 2008; 89(3): 597-601.
22. Claahsen-van der Grinten HL, Otten BJ, Sweep
FC, Hermus AR. Repeated successful induction
of fertility after replacing hydrocortisone with
dexamethasone in a patient with congenital adrenal
hyperplasia and testicular adrenal rest tumors.
Fertil Steril. 2007; 88(3): 705-708.
23. Deckx N, Lee WP, Berneman ZN, Cools N. Neuro-
endocrine immunoregulation in multiple sclerosis.
Clin Dev Immunol. 2013; 2013: 705232.
doi: 10.1155/2013/ 705232.
24. Gleicher N, Weghofer A, Kushnir VA, Shohat-
Tal A, Lazzaroni E, Lee HJ. Is androgen production
in association with immune system
activation potential evidence for existence of a
functional adrenal/ovarian autoimmune system
in women? Reprod Biol Endocrinol. 2013; 11:
58. doi: 10/1186/1477-11-58.
25. Olsson LM, Holmdahl R. Copy number variation
in autoimmunity-importance hidden in complexity?
Eur J Immunol. 2012; 42(8): 1969-1976.
26. Chen W, Xu Z, Nishitani M, Van Ryzin C, Mc-
Donnell NB, Merke DP. Complement component
4 copy number variation and CYP21A2
genotype associations in patients with congenital
adrenal hyperplasia due to 21-hydroxylase deficiency.
Hum Genet. 2012; 131(12): 1889-1894.
27. Stone MB, Stanford JB, Lyon JL, VanDerslice
JA, Alder SC. Childhood thyroid radioiodine
exposure and subsequent infertility in the intermountain
fallout cohort. Environ Health Perspect.
2013; 121(1): 79-84.
28. Chang DL, Pearce EN. Screening for maternal
thyroid dysfunction in pregnancy: A review
of the clinical evidence and current guidelines.
J Thyroid Res. 2013; 2013: 851326. doi:
10.1155/2013/851326.
29. Sinha U, Sinharay K, Saha S, Longkumer TA,
Baul SN, et al. Thyroid disorders in polycysticovarian syndrome subjects: A tertiary hospital
based cross-sectional study from Eastern India.
Indian J Endocrinol Metab. 2013; 17(2): 304-309.
30. Mansourian AR. Female reproduction physiology
adversely manipulated by thyroid disorders:
A review of literature. Pak J Biol Sci. 2013;
16(3):112-120.
31. Montgomery GW, Zondervan KT, Nyholt DR.
The future for genetic studies in reproduction.
Mol Hum Reprod. 2014; 20(1): 1-14.
32. Esteves SC. A clinical appraisal of the genetic
basis in unexplained male infertility. J Hum Reprod
Sci. 2013; 6(3): 176-182.
33. Papanikolaou EG, Vernaeve V, Kolibianakis E,
Assche EV, Bonduelle M, Liebaers I, et al. Is
chromosome analysis mandatory in the initial
investigation of norm-ovulatory women seeking
infertility treatment? Hum Reprod. 2005; 20(10):
2899-2903.
34. Pass KA, Neto EC. Update: Newborn screening
for endocrinopathies. Endocrinol Metab Clin
North Am. 2009; 38(4): 827-837.
35. Gidlöf S, Wedell A, Guthenberg C, von Döbeln
U, Nordenström A. Nationwide neonatal
screening for congenital adrenal hyperplasia
in Sweden: A 26-year longitudinal prospective
population-based study. JAMA Pediatr 2014;
168(6): 567-574.
36. Knowles RL, Khalid JM, Oerton JM, Hindmarsh
PC, Kelnar CJ, Dezateux C. Late clinical presentation
of congenital adrenal hyperplasia in
older children: Findings from national paediatric
surveillance. Arch Dis Child. 2014; 99(1): 30-34.
|
|
|
|



 |
Number 27 VOL. 27 (2), 2024 |
Number 27 VOL. 27 (1), 2024 |
Number 26 Number 26 VOL. 26(2), 2023 All in one |
Number 26 VOL. 26(2), 2023 |
Number 26 VOL. 26, 2023 Supplement |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
Number 21 VOL. 21, 2018 Supplement |
Number 20 VOL. 20 (2), 2017 |
Number 20 VOL. 20 (1), 2017 |
Number 19 VOL. 19 (2), 2016 |
Number 19 VOL. 19 (1), 2016 |
Number 18 VOL. 18 (2), 2015 |
Number 18 VOL. 18 (1), 2015 |
Number 17 VOL. 17 (2), 2014 |
Number 17 VOL. 17 (1), 2014 |
Number 16 VOL. 16 (2), 2013 |
Number 16 VOL. 16 (1), 2013 |
Number 15 VOL. 15 (2), 2012 |
Number 15 VOL. 15, 2012 Supplement |
Number 15 Vol. 15 (1), 2012 |
Number 14 14 - Vol. 14 (2), 2011 |
Number 14 The 9th Balkan Congress of Medical Genetics |
Number 14 14 - Vol. 14 (1), 2011 |
Number 13 Vol. 13 (2), 2010 |
Number 13 Vol.13 (1), 2010 |
Number 12 Vol.12 (2), 2009 |
Number 12 Vol.12 (1), 2009 |
Number 11 Vol.11 (2),2008 |
Number 11 Vol.11 (1),2008 |
Number 10 Vol.10 (2), 2007 |
Number 10 10 (1),2007 |
Number 9 1&2, 2006 |
Number 9 3&4, 2006 |
Number 8 1&2, 2005 |
Number 8 3&4, 2004 |
Number 7 1&2, 2004 |
Number 6 3&4, 2003 |
Number 6 1&2, 2003 |
Number 5 3&4, 2002 |
Number 5 1&2, 2002 |
Number 4 Vol.3 (4), 2000 |
Number 4 Vol.2 (4), 1999 |
Number 4 Vol.1 (4), 1998 |
Number 4 3&4, 2001 |
Number 4 1&2, 2001 |
Number 3 Vol.3 (3), 2000 |
Number 3 Vol.2 (3), 1999 |
Number 3 Vol.1 (3), 1998 |
Number 2 Vol.3(2), 2000 |
Number 2 Vol.1 (2), 1998 |
Number 2 Vol.2 (2), 1999 |
Number 1 Vol.3 (1), 2000 |
Number 1 Vol.2 (1), 1999 |
Number 1 Vol.1 (1), 1998 |
|
|