Cinsiyet Gelişim Bozukluğu
Özet
Referanslar
McCann-Crosby B, Sutton VR. Disorders of sexual development. Clinics in Perinatology. 2015;42:395-412.
Lee PA, Nordenstrom A, Houk CP, et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Hormone Research in Paediatrics. 2016;85:158-180.
Ostrer H. Disorders of sex development (DSDs): an update. Journal of Clinical Endocrinology and Metabolism. 2014;99:1503-1509.
Carrillo AA, Damian M, Berkovitz G. Disorders of Sexual Differentiation. In: Lifschitz F, ed. Pediatric Endocrinology, 5th ed. New York, Informa Healthcare; 2007;365-390.
Barbaro M, We dell A, Nordenström A. Disorders of sex development. Seminars in Fetal & Neonatal Medicine. 2011;16(2):119-127.
Lee MM. Molecular genetic control of sex differentiation. In: Pescovitz OH, Eugster EA,eds. Pediatric Endocrinology, Philadelphia: Lippincott Williams&Wilkin, 2004;231-304.
Kucia M, Jankowski K, Reca R, et al. CXCR4- SDF-1 signalling, locomotion, chemotaxis and adhesion. The Journal of Molecular Histology. 2004;35(3):233- 245.
Çetinkaya E, Ocal G, Berberoğlu M, et al. Association of partial gonadal dysgenesis, nephropathy and WT1 gene 76mutation without Wilms' tu mor: incomplete Denys-Drash syndrome. Journal of Pediatric Endocrinology and Metabolism. 2001;14(5):561-564.
Schimmer BP, White PC. Minireview: steroidogenic factor 1: its roles in differentiation, development, and diseae. Journal of Molecular Endocrinology. 2010;24(7):1322- 1337.
Val P, Swain A. Mechanisms of Disease: normal and abnormal gonadal development and sex determination in mammals. Nature Reviews Urology. 2005;2(12):616-627.
Stukenborg JB, Colón E, Söder O. Ontogenesis of testis development and function in humans. Sexual Devolopment. 2010;4(4-5):199-212.
Brennan J, Capel B. One tissue, two fates: molecular genetic events that underlie testis versus ovary development. Nature Reviews Genetics. 2004;5(7):509-521.
Sekido R, Lovell-Badge R. Sex determination and SRY: down to a wink and a nudge? Trends in Genetics. 2009;25(1):19-29.
Ravel C, Lakhal B, Elghezal H, et al. Novel human pathological mutations. Genesymbol: SRY. Disease: XY sex reversal. Human Genetics. 2009;126(2):333.
Sim H, Argentaro A, Harley VR. Boys, girls and shutt ling of SRY and SOX9. Trends in Endocrinology and Metabolism. 2008;19(6):213-222.
Arango NA, Lovell-Bad ge R, Behringer RR. Targeted mutagenesis of the endogenous mouse Mis gene promoter: in vivo definition of genetic path ways of vertebrate sexual develop ment. Cell. 1999;99(4):409-419
Ferlin A, Bogatche va NV, Gianesello L, et al. Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome: 77 clinical and functional characterization. Molecular Human Reproduction. 2006;12(6):401- 406.
Nation TR, Balic A, South well BR, et al. The hormonal control of testicular descent. Pediatric Endocrinology Reviews. 2009;7(1):22- 31.
Josso N, di Clemente N, Gouédard L. Anti- Müllerian hormone and its receptors. Molecular and Cellular Endocrinology. 2001;179(1-2):25-32.
Ottolenghi C, Uda M, Crisponi L et al. Determination and stability of sex. Bioessays. 2007;29(1):15-25.
Rapaport R, Disorders of Sexuel Development, In: Behrman R.E, Kliegman R.M, Jenson H.B Nelson Textbook of Pediatrics 2008, 18th Edition; Chapter 582, page 1939- 1946
Couch RM., Winter JSD.: Sexual Differentiation. in: Feling P., Frohman LA (eds). Endocronology Metabolism, 4th ed. McGraw-Hill companies, United State, 2001;779-817
Forest MG., Quigley CA.: Diagnosis and treatment of Disorders of Sexual Development. Genetic basis of Sex Determination and Differentiation in: Groot LJD., Jameson JL., Burger HG., Odel WD (eds). Endocronology, 4th ed. Philadelphia, Elsevier Saunders,2001;1885 -2001
Lanes, R.Sex hormone priming. Journal of Pediatric The Journal of Clinical Endocrinology & Metabolism. 2011;24(1-2):7-8.
Pierce JG, Parsons TF. Glycoprotein hormones: structure and function. The Annual Review of Biochemistry. 1981;50:465-495.
Tsutsumi R, Webster NJ.GnRH pulsatility, the pituitary response and reproductive dysfunction. Endocrine Journal. 2009;56(6):729–737.
Ulloa-Aguirre A, Reiter E, Crépieux P. FSH Receptor Signaling: Complexity of Interactions and Signal Diversity. Endocrinology. 2018;159(8):3020– 3035.
Fowler PA, Sorsa-Leslie T, Harris W, et al. Ovarian gonadotrophin surge-attenuating factor (GnSAF): where are we after 20 years of research? Reproduction. 2003;126(6):689–699.
Oduwole OO, Peltoketo H, Huhtaniemi IT. Role of follicle-stimulating hormone in spermatogenesis. Frontiers in Endocrinology. 2018;9:763.
Tsampalas M, Gridelet V, Berndt S, et al. Human chorionic gonadotropin: a hormone with immunological and angiogenic properties. Journal of Reproductive Immunology. 2010;85(1):93-98.
Sheffield-Moore M. Androgens and the control of skeletal muscle protein synthesis. Annals of Medicine. 2000;32(3):181–186.
Davey RA, Grossmann M. Androgen receptor structure, function and biology: from bench to bedside. Clinical Biochemistry. 2016;37(1):3.
Heemers HV, Tindall. Androgen receptor (AR) coregulators: a diversity of functions converging on and regulating the AR transcriptional complex. Endocrine Reviews. 2007;28 (7):778–808
Pandini G, Mineo R, Frasca F, et al. Androgens up-regulate the insulin-like growth factor-I receptor in prostate cancer cells. Cancer Research. 2005;65(5):1849–1857
Giles. Sex hormones and sexual desire. Journal for the Theory of Social Behaviour. 2008;38(1):45–66.
Sharpe RM, Skakkebaek NE. Are oestrogens involved in falling sperm counts and disorders of the male reproductive tract? Lancet. 1993;341(8857):1392-1395.
McCann-Crosby B, Sutton VR. Disorders of sexual development. Clinics in Perinatology . 2015;42(2):395-412
Hughes IA, Houk C, Ahmed SF., et al. Consensus statement on management of intersex disorders. The Journal of Pediatric Urology. 2006;2(3):148-162.
Lee PA, Houk CP, Ahmed SF, Hughes IA. International conferences on intersex organized by lawson wilkins pediatric endocrin esociety and european society for paediatric endocrinology. Consensus statement on management of intersex disorders. International Conference on intersex. Pediatrics. 2006;118(2):e488-500.
Sybert VP, McCauley E. Turner's syndrome. The New England Journal of Medicine. 2004;351:1227 38.
Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study GroupThe Journal of Clinical Endocrinology & Metabolism. 2007;92:10-25
Visootsak J, Graham JM, Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet Journal of Rare Diseases . 2006;1:42.
Rogol AD, Tartaglia N. Considerations for androgen therapy in children and adolescents with Klinefelter syndrome (47, XXY). Pediatric Endocrinology Reviews. 2010;8:145-150.
Tosson H, Rose SR, Gartner LA. Description of children with 45,X/46,XY karyotype. European Journal of Pediatrics. 2012;171:521-529
Farrugia MK, Sebire NJ, Achermann JC, Eisawi A, Duffy PG, Mushtaq I. Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies. The Journal of Pediatric Urology. 2013;9:139-144.
Madan K. Natural human chimeras: A review. The European Journal of Medical Genetics.2020;103971.
Boklage CE. Embryogenesis of chimeras, twins and anterior midline asymmetries. Human reproduction. 2006;21(3):579-591
Carrillo A, Damian M, Berkovitz G. Disorders of sexual differentiation. In: Lifshitz F, (eds). Pediatric endocrinology. 5 ed. New York, Marcel Dekker, 2007;365-390
Evliyaoğlu O. 46.XY Tam veya Kısmi Gonadal Disgeneziler. İçinde: Akıncı A, Saka N, (editorler). Cinsiyet Gelişim Bozuklukları. 1. Baskı. İstanbul, Nobel Tıp Kitabevleri, 2015;89-92
Spires SE, Woolums CS, Pulito AR, Spires SM. Testicular regression syndrome: a clinical and pathologic study of 11 cases. The Archives of Pathology & Laboratory Medicine. 2000;124:694-698.
Van Savage JG. Avoidance of inguinal incision in laparoscopically confirmed vanishing testis syndrome. The Journal of Urology. 2001;166:1421-1424.
Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of steroidogenesis and its disorders. Endocrine reviews. 2011;32(1):81-151.
Pang S. Congenital adrenal hyperplasia owing to 3β-hydroxysteroid dehydrogenase deficiency. Endocrinology and Metabolism Clinics of North America. 2001;30(1):81-99
Mermejo LM, Elias LL, Marui S, et al. Refining hormonal diagnosis of type II 3β-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. The Journal of Clinical Endocrinology & Metabolism. 2005;90(3):1287-1293
Simard J, Ricketts ML, Gingras S, et al. Molecular biology of the 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase gene family. Endocrine reviews. 2005;26(4):525-582.
Russell AJ, Wallace AM, Forest MG, et al. Mutation in the human gene for 3β-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss. Journal of Molecular Endocrinology. 1994;12(2):225-237.
George MM, New MI, Ten S, et al. The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency. Hormone Research in Paediatrics. 2010;74(4):229-240
Rösler A, Belanger A, Labrie F. Mechanisms of androgen production in male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency. Journal of Clinical Endocrinology and Metabolism. 1992;75(3):773-778.
Boehmer AL, Brinkmann AO, Sandkuijl LA, et al. 17β-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide 81 distribution of ancient and de novo mutations. Journal of Clinical Endocrinology and Metabolism. 1999;84(12):4713-4721.
Farkas A, Rosler A. Ten years experience with masculinizing genitoplasty in male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency.Eur J Pediatr. European Journal of Pediatrics. 1993;152(2):S88 S90.
Nordenskjöld A, Ivarsson SA. Molecular characterization of 5α-reductase type 2 deficiency and fertility in a Swedish family. Journal of Clinical Endocrinology and Metabolism. 1998;3(9):3236-3238
Sinnecker GH, Hiort O, Dibbelt L, et al. Phenotypic classification of male pseudohermaphroditism due to steroid 5α‐reductase 2 deficiency. The American Journal of Medical Genetics. 1996;63(1):223-230.
Maimoun L, Philibert P, Cammas B, et al. Phenotypical, biological, and molecular heterogeneity of 5α reductase deficiency: an extensive international experience of 55 patients. Journal of Clinical Endocrinology and Metabolism. 2011;96(2):296-307.
Hughes IA, Deeb A. Androgen resistance. Best practice & research.Clinical endocrinology & metabolism. 2006;20(4):577-598
Xu Q, Lin HY, Yeh SD, et al. Infertility with defective spermatogenesis and steroidogenesis in male mice lacking androgen receptor in Leydig cells. Endocrine. 2007;32(1):96-106
Cheikhelard A, Morel Y, Thibaud Eet al. Long-term follow-up and comparison between genotype and phenotype in 29 cases with complete androgen insensitivity syndrome (CAIS). In Hormone Research. Allschwılerstrasse 10, Ch-4009 Basel, Swıtzerland: Karger. 2008;70:30
Papadimitriou DT, Linglart A, Morel Y, et al. Puberty in subjects with complete androgen The Journal of Pediatrics. 2006;65(3):126-131.
Sarpel U, Palmer SK, Dolgin SE. The incidence of complete androgen insensitivity in girls with inguinal hernias and assessment of screening by vaginal length measurement. The Journal of Pediatric Surgery. 2005;40(1):133-137
Pleskacova J, Hersmus R, Oosterhuis JW, et al. Tumor risk in disorders of sex development. Sexual Development. 2010;4(4-5):259-269
Ahmed SF, Cheng A, Dovey L, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. Journal of Clinical Endocrinology and Metabolism. 2000;85(2):658-665
Money J, Ehrhardt AA, Masica DN. Fetal feminization induced by androgen insensitivity in the testicular feminizing syndrome: effect on marriage and maternalism. Johns Hopkins Medicine. 1968;123(3):105
Bouvattier C, Mignot B, Lefèvre H, et al. Impaired sexual activity in male adults with partial androgen insensitivity. Journal of Clinical Endocrinology and Metabolism.2006;91(9):3310-3315.
Rice A, Rivkees S. Receptor Transduction Of Hormone Action. In: Sperling M, (eds). Pediatric Endocrinology. Philadelphia, Saunders Elsevier. 2008;26
Mendonca BB, Costa EM, Belgorosky A, et al. 46,XY DSD due to impaired androgen production. Best Practice & Research Clinical Endocrinology & Metabolism. 2010;24:243-262
Mendonca BB, Domenice S, Arnhold IJ, et al. 46,XY disorders of sex development (DSD). Clinical Endocrinology. 2009,70:173-187
Farikullah J, Ehtisham S, Nappo S, et al. Persistent Mullerian duct syndrome: lessons learned from managing a series of eight patients over a 10-year period and review of literature regarding malignant risk from the Mullerian remnants. British Journal of Urology International. 2012;110:E1084-1089
Della Valle E, Vezzani S, Rochira V, et al. Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism. Frontiers in Endocrinology. 2013;4:70
Matsui F, Shimada K, Matsumoto F, et al. Long-term outcome of ovotesticular disorder of sex development: a single center experience. International Journal of Urology. 2011;18:231-236
Verkauskas G, Jaubert F, Lortat-Jacob S, et al. The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery. Journal of Urology. 2007;177:726-731
Chen CP, Chern SR, Sheu JC, et al. Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera. Prenatal Diagnosis. 2005;25:502-506
Böber E, Ayhan A. 46, XX Erkek Cinsiyet Gelişim Bozukluğu. İçinde: Akıncı A, Saka N, (editorler). Cinsiyet Gelişim Bozuklukları. 1. Baskı. İstanbul, Nobel Tıp Kitabevleri, 2015;81-86
Auchus RJ, Chang AY. 46, XX DSD: the masculinised female. Best Practice & Research Clinical Endocrinology & Metabolism. 2010;24(2):219-242
Miller WL. The adrenal cortex and its disorders. In Brook's Clinical Pediatric Endocrinology, 2010
Therrell BL, Berenbaum SA, Manter-Kapanke V, et al. Results of screening 1.9 million Texas newborns for 21 hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics. 1998;101(4):583-590.
Clayton PE. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Peiatric Endocrinology.Journal of Clinical Endocrinology and Metabolism. 2002;87(9):4046-4053.
German A, Suraiya S, Tenenbaum-Rakover Y, et al. Control of childhood congenital adrenal hyperplasia and sleep activity and quality with morning or evening glucocorticoid therapy. Journal of Clinical Endocrinology and Metabolism. 2008;93(12):4707-4710
Nimkarn S, New MI. Steroid 11β-hydroxylase deficiency congenital adrenal hyperplasia. Trends in Endocrinology and Metabolism. 2008;19(3):96-99
Arboleda V, Vilain E. Disorders of sex development. In Genetic diagnosis of endocrine disorders. Academic Press. 2016;259-278
Bulun SE. Aromatase defıcıency. Fertility and Sterility. 2014;101(2):323
Kousta E, Papathanasiou A, Skordis N. Sex determination and disorders of sex development according to the revised nomenclature and classification in 46, XX individuals. Hormones. 2010;9(3):218-231
Referanslar
McCann-Crosby B, Sutton VR. Disorders of sexual development. Clinics in Perinatology. 2015;42:395-412.
Lee PA, Nordenstrom A, Houk CP, et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Hormone Research in Paediatrics. 2016;85:158-180.
Ostrer H. Disorders of sex development (DSDs): an update. Journal of Clinical Endocrinology and Metabolism. 2014;99:1503-1509.
Carrillo AA, Damian M, Berkovitz G. Disorders of Sexual Differentiation. In: Lifschitz F, ed. Pediatric Endocrinology, 5th ed. New York, Informa Healthcare; 2007;365-390.
Barbaro M, We dell A, Nordenström A. Disorders of sex development. Seminars in Fetal & Neonatal Medicine. 2011;16(2):119-127.
Lee MM. Molecular genetic control of sex differentiation. In: Pescovitz OH, Eugster EA,eds. Pediatric Endocrinology, Philadelphia: Lippincott Williams&Wilkin, 2004;231-304.
Kucia M, Jankowski K, Reca R, et al. CXCR4- SDF-1 signalling, locomotion, chemotaxis and adhesion. The Journal of Molecular Histology. 2004;35(3):233- 245.
Çetinkaya E, Ocal G, Berberoğlu M, et al. Association of partial gonadal dysgenesis, nephropathy and WT1 gene 76mutation without Wilms' tu mor: incomplete Denys-Drash syndrome. Journal of Pediatric Endocrinology and Metabolism. 2001;14(5):561-564.
Schimmer BP, White PC. Minireview: steroidogenic factor 1: its roles in differentiation, development, and diseae. Journal of Molecular Endocrinology. 2010;24(7):1322- 1337.
Val P, Swain A. Mechanisms of Disease: normal and abnormal gonadal development and sex determination in mammals. Nature Reviews Urology. 2005;2(12):616-627.
Stukenborg JB, Colón E, Söder O. Ontogenesis of testis development and function in humans. Sexual Devolopment. 2010;4(4-5):199-212.
Brennan J, Capel B. One tissue, two fates: molecular genetic events that underlie testis versus ovary development. Nature Reviews Genetics. 2004;5(7):509-521.
Sekido R, Lovell-Badge R. Sex determination and SRY: down to a wink and a nudge? Trends in Genetics. 2009;25(1):19-29.
Ravel C, Lakhal B, Elghezal H, et al. Novel human pathological mutations. Genesymbol: SRY. Disease: XY sex reversal. Human Genetics. 2009;126(2):333.
Sim H, Argentaro A, Harley VR. Boys, girls and shutt ling of SRY and SOX9. Trends in Endocrinology and Metabolism. 2008;19(6):213-222.
Arango NA, Lovell-Bad ge R, Behringer RR. Targeted mutagenesis of the endogenous mouse Mis gene promoter: in vivo definition of genetic path ways of vertebrate sexual develop ment. Cell. 1999;99(4):409-419
Ferlin A, Bogatche va NV, Gianesello L, et al. Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome: 77 clinical and functional characterization. Molecular Human Reproduction. 2006;12(6):401- 406.
Nation TR, Balic A, South well BR, et al. The hormonal control of testicular descent. Pediatric Endocrinology Reviews. 2009;7(1):22- 31.
Josso N, di Clemente N, Gouédard L. Anti- Müllerian hormone and its receptors. Molecular and Cellular Endocrinology. 2001;179(1-2):25-32.
Ottolenghi C, Uda M, Crisponi L et al. Determination and stability of sex. Bioessays. 2007;29(1):15-25.
Rapaport R, Disorders of Sexuel Development, In: Behrman R.E, Kliegman R.M, Jenson H.B Nelson Textbook of Pediatrics 2008, 18th Edition; Chapter 582, page 1939- 1946
Couch RM., Winter JSD.: Sexual Differentiation. in: Feling P., Frohman LA (eds). Endocronology Metabolism, 4th ed. McGraw-Hill companies, United State, 2001;779-817
Forest MG., Quigley CA.: Diagnosis and treatment of Disorders of Sexual Development. Genetic basis of Sex Determination and Differentiation in: Groot LJD., Jameson JL., Burger HG., Odel WD (eds). Endocronology, 4th ed. Philadelphia, Elsevier Saunders,2001;1885 -2001
Lanes, R.Sex hormone priming. Journal of Pediatric The Journal of Clinical Endocrinology & Metabolism. 2011;24(1-2):7-8.
Pierce JG, Parsons TF. Glycoprotein hormones: structure and function. The Annual Review of Biochemistry. 1981;50:465-495.
Tsutsumi R, Webster NJ.GnRH pulsatility, the pituitary response and reproductive dysfunction. Endocrine Journal. 2009;56(6):729–737.
Ulloa-Aguirre A, Reiter E, Crépieux P. FSH Receptor Signaling: Complexity of Interactions and Signal Diversity. Endocrinology. 2018;159(8):3020– 3035.
Fowler PA, Sorsa-Leslie T, Harris W, et al. Ovarian gonadotrophin surge-attenuating factor (GnSAF): where are we after 20 years of research? Reproduction. 2003;126(6):689–699.
Oduwole OO, Peltoketo H, Huhtaniemi IT. Role of follicle-stimulating hormone in spermatogenesis. Frontiers in Endocrinology. 2018;9:763.
Tsampalas M, Gridelet V, Berndt S, et al. Human chorionic gonadotropin: a hormone with immunological and angiogenic properties. Journal of Reproductive Immunology. 2010;85(1):93-98.
Sheffield-Moore M. Androgens and the control of skeletal muscle protein synthesis. Annals of Medicine. 2000;32(3):181–186.
Davey RA, Grossmann M. Androgen receptor structure, function and biology: from bench to bedside. Clinical Biochemistry. 2016;37(1):3.
Heemers HV, Tindall. Androgen receptor (AR) coregulators: a diversity of functions converging on and regulating the AR transcriptional complex. Endocrine Reviews. 2007;28 (7):778–808
Pandini G, Mineo R, Frasca F, et al. Androgens up-regulate the insulin-like growth factor-I receptor in prostate cancer cells. Cancer Research. 2005;65(5):1849–1857
Giles. Sex hormones and sexual desire. Journal for the Theory of Social Behaviour. 2008;38(1):45–66.
Sharpe RM, Skakkebaek NE. Are oestrogens involved in falling sperm counts and disorders of the male reproductive tract? Lancet. 1993;341(8857):1392-1395.
McCann-Crosby B, Sutton VR. Disorders of sexual development. Clinics in Perinatology . 2015;42(2):395-412
Hughes IA, Houk C, Ahmed SF., et al. Consensus statement on management of intersex disorders. The Journal of Pediatric Urology. 2006;2(3):148-162.
Lee PA, Houk CP, Ahmed SF, Hughes IA. International conferences on intersex organized by lawson wilkins pediatric endocrin esociety and european society for paediatric endocrinology. Consensus statement on management of intersex disorders. International Conference on intersex. Pediatrics. 2006;118(2):e488-500.
Sybert VP, McCauley E. Turner's syndrome. The New England Journal of Medicine. 2004;351:1227 38.
Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study GroupThe Journal of Clinical Endocrinology & Metabolism. 2007;92:10-25
Visootsak J, Graham JM, Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet Journal of Rare Diseases . 2006;1:42.
Rogol AD, Tartaglia N. Considerations for androgen therapy in children and adolescents with Klinefelter syndrome (47, XXY). Pediatric Endocrinology Reviews. 2010;8:145-150.
Tosson H, Rose SR, Gartner LA. Description of children with 45,X/46,XY karyotype. European Journal of Pediatrics. 2012;171:521-529
Farrugia MK, Sebire NJ, Achermann JC, Eisawi A, Duffy PG, Mushtaq I. Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies. The Journal of Pediatric Urology. 2013;9:139-144.
Madan K. Natural human chimeras: A review. The European Journal of Medical Genetics.2020;103971.
Boklage CE. Embryogenesis of chimeras, twins and anterior midline asymmetries. Human reproduction. 2006;21(3):579-591
Carrillo A, Damian M, Berkovitz G. Disorders of sexual differentiation. In: Lifshitz F, (eds). Pediatric endocrinology. 5 ed. New York, Marcel Dekker, 2007;365-390
Evliyaoğlu O. 46.XY Tam veya Kısmi Gonadal Disgeneziler. İçinde: Akıncı A, Saka N, (editorler). Cinsiyet Gelişim Bozuklukları. 1. Baskı. İstanbul, Nobel Tıp Kitabevleri, 2015;89-92
Spires SE, Woolums CS, Pulito AR, Spires SM. Testicular regression syndrome: a clinical and pathologic study of 11 cases. The Archives of Pathology & Laboratory Medicine. 2000;124:694-698.
Van Savage JG. Avoidance of inguinal incision in laparoscopically confirmed vanishing testis syndrome. The Journal of Urology. 2001;166:1421-1424.
Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of steroidogenesis and its disorders. Endocrine reviews. 2011;32(1):81-151.
Pang S. Congenital adrenal hyperplasia owing to 3β-hydroxysteroid dehydrogenase deficiency. Endocrinology and Metabolism Clinics of North America. 2001;30(1):81-99
Mermejo LM, Elias LL, Marui S, et al. Refining hormonal diagnosis of type II 3β-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. The Journal of Clinical Endocrinology & Metabolism. 2005;90(3):1287-1293
Simard J, Ricketts ML, Gingras S, et al. Molecular biology of the 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase gene family. Endocrine reviews. 2005;26(4):525-582.
Russell AJ, Wallace AM, Forest MG, et al. Mutation in the human gene for 3β-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss. Journal of Molecular Endocrinology. 1994;12(2):225-237.
George MM, New MI, Ten S, et al. The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency. Hormone Research in Paediatrics. 2010;74(4):229-240
Rösler A, Belanger A, Labrie F. Mechanisms of androgen production in male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency. Journal of Clinical Endocrinology and Metabolism. 1992;75(3):773-778.
Boehmer AL, Brinkmann AO, Sandkuijl LA, et al. 17β-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide 81 distribution of ancient and de novo mutations. Journal of Clinical Endocrinology and Metabolism. 1999;84(12):4713-4721.
Farkas A, Rosler A. Ten years experience with masculinizing genitoplasty in male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency.Eur J Pediatr. European Journal of Pediatrics. 1993;152(2):S88 S90.
Nordenskjöld A, Ivarsson SA. Molecular characterization of 5α-reductase type 2 deficiency and fertility in a Swedish family. Journal of Clinical Endocrinology and Metabolism. 1998;3(9):3236-3238
Sinnecker GH, Hiort O, Dibbelt L, et al. Phenotypic classification of male pseudohermaphroditism due to steroid 5α‐reductase 2 deficiency. The American Journal of Medical Genetics. 1996;63(1):223-230.
Maimoun L, Philibert P, Cammas B, et al. Phenotypical, biological, and molecular heterogeneity of 5α reductase deficiency: an extensive international experience of 55 patients. Journal of Clinical Endocrinology and Metabolism. 2011;96(2):296-307.
Hughes IA, Deeb A. Androgen resistance. Best practice & research.Clinical endocrinology & metabolism. 2006;20(4):577-598
Xu Q, Lin HY, Yeh SD, et al. Infertility with defective spermatogenesis and steroidogenesis in male mice lacking androgen receptor in Leydig cells. Endocrine. 2007;32(1):96-106
Cheikhelard A, Morel Y, Thibaud Eet al. Long-term follow-up and comparison between genotype and phenotype in 29 cases with complete androgen insensitivity syndrome (CAIS). In Hormone Research. Allschwılerstrasse 10, Ch-4009 Basel, Swıtzerland: Karger. 2008;70:30
Papadimitriou DT, Linglart A, Morel Y, et al. Puberty in subjects with complete androgen The Journal of Pediatrics. 2006;65(3):126-131.
Sarpel U, Palmer SK, Dolgin SE. The incidence of complete androgen insensitivity in girls with inguinal hernias and assessment of screening by vaginal length measurement. The Journal of Pediatric Surgery. 2005;40(1):133-137
Pleskacova J, Hersmus R, Oosterhuis JW, et al. Tumor risk in disorders of sex development. Sexual Development. 2010;4(4-5):259-269
Ahmed SF, Cheng A, Dovey L, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. Journal of Clinical Endocrinology and Metabolism. 2000;85(2):658-665
Money J, Ehrhardt AA, Masica DN. Fetal feminization induced by androgen insensitivity in the testicular feminizing syndrome: effect on marriage and maternalism. Johns Hopkins Medicine. 1968;123(3):105
Bouvattier C, Mignot B, Lefèvre H, et al. Impaired sexual activity in male adults with partial androgen insensitivity. Journal of Clinical Endocrinology and Metabolism.2006;91(9):3310-3315.
Rice A, Rivkees S. Receptor Transduction Of Hormone Action. In: Sperling M, (eds). Pediatric Endocrinology. Philadelphia, Saunders Elsevier. 2008;26
Mendonca BB, Costa EM, Belgorosky A, et al. 46,XY DSD due to impaired androgen production. Best Practice & Research Clinical Endocrinology & Metabolism. 2010;24:243-262
Mendonca BB, Domenice S, Arnhold IJ, et al. 46,XY disorders of sex development (DSD). Clinical Endocrinology. 2009,70:173-187
Farikullah J, Ehtisham S, Nappo S, et al. Persistent Mullerian duct syndrome: lessons learned from managing a series of eight patients over a 10-year period and review of literature regarding malignant risk from the Mullerian remnants. British Journal of Urology International. 2012;110:E1084-1089
Della Valle E, Vezzani S, Rochira V, et al. Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism. Frontiers in Endocrinology. 2013;4:70
Matsui F, Shimada K, Matsumoto F, et al. Long-term outcome of ovotesticular disorder of sex development: a single center experience. International Journal of Urology. 2011;18:231-236
Verkauskas G, Jaubert F, Lortat-Jacob S, et al. The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery. Journal of Urology. 2007;177:726-731
Chen CP, Chern SR, Sheu JC, et al. Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera. Prenatal Diagnosis. 2005;25:502-506
Böber E, Ayhan A. 46, XX Erkek Cinsiyet Gelişim Bozukluğu. İçinde: Akıncı A, Saka N, (editorler). Cinsiyet Gelişim Bozuklukları. 1. Baskı. İstanbul, Nobel Tıp Kitabevleri, 2015;81-86
Auchus RJ, Chang AY. 46, XX DSD: the masculinised female. Best Practice & Research Clinical Endocrinology & Metabolism. 2010;24(2):219-242
Miller WL. The adrenal cortex and its disorders. In Brook's Clinical Pediatric Endocrinology, 2010
Therrell BL, Berenbaum SA, Manter-Kapanke V, et al. Results of screening 1.9 million Texas newborns for 21 hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics. 1998;101(4):583-590.
Clayton PE. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Peiatric Endocrinology.Journal of Clinical Endocrinology and Metabolism. 2002;87(9):4046-4053.
German A, Suraiya S, Tenenbaum-Rakover Y, et al. Control of childhood congenital adrenal hyperplasia and sleep activity and quality with morning or evening glucocorticoid therapy. Journal of Clinical Endocrinology and Metabolism. 2008;93(12):4707-4710
Nimkarn S, New MI. Steroid 11β-hydroxylase deficiency congenital adrenal hyperplasia. Trends in Endocrinology and Metabolism. 2008;19(3):96-99
Arboleda V, Vilain E. Disorders of sex development. In Genetic diagnosis of endocrine disorders. Academic Press. 2016;259-278
Bulun SE. Aromatase defıcıency. Fertility and Sterility. 2014;101(2):323
Kousta E, Papathanasiou A, Skordis N. Sex determination and disorders of sex development according to the revised nomenclature and classification in 46, XX individuals. Hormones. 2010;9(3):218-231
