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Abstract
RÉSUMÉ
Le syndrome de La Chapelle est une anomalie du développement testiculaire associée à un caryotype 46, XX. La clinique est variable allant d’un phénotype masculin normal, à un phénotype ambigu. Il pose dans tous les cas, un problème d’infertilité. Nous décrivons un homme de 25 ans, présentant un hypospadia et une gynécomastie. Les examens révélaient un hypogonadisme hypergonadotrope, une formule chromosomique 46XX. L’analyse par FISH était négative pour le SRY. Le traitement a consisté en la réparation chirurgicale des organes génitaux externes et une supplémentation androgénique. Ce cas montre qu’une induction testiculaire reste possible malgré l’absence du SRY.
ABSTRACT
La Chapelle syndrome is a testicular disorders of sex development associated with a 46, XX karyotype. The clinic is variable, ranging from a normal male phenotype to an ambiguous phenotype resulting to an infertility. We report the case of a 25-year-old patient presenting with hypospadia and gynecomastia. Tests revealed hypergonadotrophic hypogonadism, associated to a 46, XX karyotype. FISH analysis was negative for SRY. Treatment consisted of surgical repair of the external genitalia and androgenic supplementation. This case shows that testicular induction remains possible despite the absence of SRY.
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References
- De la Chapelle A, Hortling H, Neimi M, wennstrom J. XX sex chromosomes in a human male. First case. Acta Med Scand. 1964;175(412):25–8.
- McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc Natl Acad Sci USA. 1993; 90:3368–72.
- Guellaen G, Casanova M, Bishop C, Geldwerth D, Andre G, Fellous M. HumanXXmales with Y single copyDNA fragments. Nature. 1984; 307:172–3.
- McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F, Lortat-Jacob S. A minority of 46, XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum Genet. 1992 ;90 :121–5.
- Toublanc J-E, Boucekkine C. Les phénotypes en rapport avec les anomalies du gène sry. Médecine Thérapeutique Endocrinol. 2001;3(4):295–303.
- Délot EC, Vilain E. Nonsyndromic 46, XX Testicular Disorders of Sex Development. In: GeneReviews. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,. Seattle (WA): University of Washington, Seattle; 1993.
- Ferguson-Smith M, Cooke A, Affara N, Boyd E, Tolmie J. Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. Hum Genet. 1990; 84:198–202.
- Huang B, Wang S, Ning Y, Lamb A, Bartley J. Autosomal XX sex reversal caused by duplication of SOX9. Am J Med Genet. 1999; 87:349–53.
- Chiang H, Wu Y, Wu C, Hwang J. Cytogenic and molecular analyses of 46, XX male syndrome with clinical comparison to other groups with testicular azoospermiaof genetic origin. J Formos Med Assoc. 2013; 112:72–8.
- Mehmet MY, Cigdem O, Mujde A, Ferda EP, Alev A, Ayhan K, et al. 46 XX male syndrome with hypogonadotropic hypogonadism: A case report. North Clin Istanb. 2019;6(3).
References
De la Chapelle A, Hortling H, Neimi M, wennstrom J. XX sex chromosomes in a human male. First case. Acta Med Scand. 1964;175(412):25–8.
McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc Natl Acad Sci USA. 1993; 90:3368–72.
Guellaen G, Casanova M, Bishop C, Geldwerth D, Andre G, Fellous M. HumanXXmales with Y single copyDNA fragments. Nature. 1984; 307:172–3.
McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F, Lortat-Jacob S. A minority of 46, XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum Genet. 1992 ;90 :121–5.
Toublanc J-E, Boucekkine C. Les phénotypes en rapport avec les anomalies du gène sry. Médecine Thérapeutique Endocrinol. 2001;3(4):295–303.
Délot EC, Vilain E. Nonsyndromic 46, XX Testicular Disorders of Sex Development. In: GeneReviews. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,. Seattle (WA): University of Washington, Seattle; 1993.
Ferguson-Smith M, Cooke A, Affara N, Boyd E, Tolmie J. Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. Hum Genet. 1990; 84:198–202.
Huang B, Wang S, Ning Y, Lamb A, Bartley J. Autosomal XX sex reversal caused by duplication of SOX9. Am J Med Genet. 1999; 87:349–53.
Chiang H, Wu Y, Wu C, Hwang J. Cytogenic and molecular analyses of 46, XX male syndrome with clinical comparison to other groups with testicular azoospermiaof genetic origin. J Formos Med Assoc. 2013; 112:72–8.
Mehmet MY, Cigdem O, Mujde A, Ferda EP, Alev A, Ayhan K, et al. 46 XX male syndrome with hypogonadotropic hypogonadism: A case report. North Clin Istanb. 2019;6(3).