Olgu Sunumu
Yıl 2023,
Cilt: 3 Sayı: 2, 72 - 75, 29.04.2023
Öz
Kaynakça
- De La Chapelle A, Hortling H, Niemi M, Wennstroem J. XX Sex Chromosomes in a Human Male. First Case. Acta Med Scand. 1964;175:Suppl 412:25-8. doi: 10.1111/j.0954-6820.1964.tb04630.x.
- Page DC, de la Chapelle A, Weissenbach J. Chromosome Y-specific DNA in related human XX males. Nature. 1985 May 16-22;315(6016):224-6. doi: 10.1038/315224a0.
- Acién P, Acién M. Disorders of Sex Development: Classification, Review, and Impact on Fertility. J Clin Med. 2020 Nov 4;9(11):3555. doi: 10.3390/jcm9113555.
- Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocrinol Metab. 2007 Sep;92(9):3458-65. doi: 10.1210/jc.2007-0447. Epub 2007 Jun 19.
- Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, Semrouni M, Jaubert F, Toublanc M, McElreavey K, Vilain E, et al. Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin Endocrinol (Oxf). 1994 Jun;40(6):733-42. doi: 10.1111/j.1365-2265.1994.tb02506.x.
- Wang T, Liu JH, Yang J, Chen J, Ye ZQ. 46, XX male sex reversal syndrome: a case report and review of the genetic basis. Andrologia. 2009 Feb;41(1):59-62. doi: 10.1111/j.1439-0272.2008.00889.x.
- Abbas N, McElreavey K, Leconiat M, Vilain E, Jaubert F, Berger R, Nihoul-Fekete C, Rappaport R, Fellous M. Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. C R Acad Sci III. 1993;316(4):375-83.
- Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, McElreavey K, New MI. Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. J Pediatr Endocrinol Metab. 2005 Aug;18(8):739-48. doi: 10.1515/jpem.2005.18.8.739.
- Zenteno-Ruiz JC, Kofman-Alfaro S, Méndez JP. 46,XX sex reversal. Arch Med Res. 2001 Nov-Dec;32(6):559-66. doi: 10.1016/s0188-4409(01)00322-8.
- Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod. 2003 Aug;18(8):1660-5. doi: 10.1093/humrep/deg348.
- Pérez-Palacios G, Medina M, Ullao-Aguirre A, Chávez BA, Villareal G, Dutrem MT, Cahill LT, Wachtel S. Gonadotropin dynamics in XX males. J Clin Endocrinol Metab. 1981 Aug;53(2):254-7. doi: 10.1210/jcem-53-2-254.
- Turunç, T. 46, xx testiküler bozukluk. Androloji Bülteni, 2014;16(59), 274-279.
Yıl 2023,
Cilt: 3 Sayı: 2, 72 - 75, 29.04.2023
Öz
Sex reversal syndromes can be summarized as an incompatibility of chromosomal sex and gonadal characteristics. A very rare syndrome. 46 XX testicular disorder was first described by De La Chapelle in 1964 in 46 XX karyotype male individuals. Generally, patients whose phenotype is male apply to the health center with infertility, impotence, loss of libido, or gynecomastia. Translating the part of the Y chromosome, including the SRY (sex-determining region Y) gene, to the X chromosome during paternal meiosis is responsible for etiopathogenesis.
In our case, a 38-year-old male patient applied to our outpatient clinic complaining of enlargement in both breasts. His beard-mustache and body hair distribution was expected, he had bilateral grade 2 gynecomastia, his penis length was 7 cm, and his testicles were small and palpable in the scrotum. Laboratory values were compatible with hypogonadotropic hypogonadism, and in the sperm analysis, azoospermia was detected. Karyotype analysis was 46 XX, SRY was also studied with the FISH (Fluorescence in Situ Hybridization) technique. The patient was diagnosed with 46 XX Testicular Disorder (de la Chapelle Syndrome), and testosterone replacement therapy was started.
We aimed to present the diagnosis and management of De La Chapelle Syndrome in our case.
Anahtar Kelimeler
Kaynakça
- De La Chapelle A, Hortling H, Niemi M, Wennstroem J. XX Sex Chromosomes in a Human Male. First Case. Acta Med Scand. 1964;175:Suppl 412:25-8. doi: 10.1111/j.0954-6820.1964.tb04630.x.
- Page DC, de la Chapelle A, Weissenbach J. Chromosome Y-specific DNA in related human XX males. Nature. 1985 May 16-22;315(6016):224-6. doi: 10.1038/315224a0.
- Acién P, Acién M. Disorders of Sex Development: Classification, Review, and Impact on Fertility. J Clin Med. 2020 Nov 4;9(11):3555. doi: 10.3390/jcm9113555.
- Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocrinol Metab. 2007 Sep;92(9):3458-65. doi: 10.1210/jc.2007-0447. Epub 2007 Jun 19.
- Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, Semrouni M, Jaubert F, Toublanc M, McElreavey K, Vilain E, et al. Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin Endocrinol (Oxf). 1994 Jun;40(6):733-42. doi: 10.1111/j.1365-2265.1994.tb02506.x.
- Wang T, Liu JH, Yang J, Chen J, Ye ZQ. 46, XX male sex reversal syndrome: a case report and review of the genetic basis. Andrologia. 2009 Feb;41(1):59-62. doi: 10.1111/j.1439-0272.2008.00889.x.
- Abbas N, McElreavey K, Leconiat M, Vilain E, Jaubert F, Berger R, Nihoul-Fekete C, Rappaport R, Fellous M. Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. C R Acad Sci III. 1993;316(4):375-83.
- Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, McElreavey K, New MI. Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. J Pediatr Endocrinol Metab. 2005 Aug;18(8):739-48. doi: 10.1515/jpem.2005.18.8.739.
- Zenteno-Ruiz JC, Kofman-Alfaro S, Méndez JP. 46,XX sex reversal. Arch Med Res. 2001 Nov-Dec;32(6):559-66. doi: 10.1016/s0188-4409(01)00322-8.
- Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod. 2003 Aug;18(8):1660-5. doi: 10.1093/humrep/deg348.
- Pérez-Palacios G, Medina M, Ullao-Aguirre A, Chávez BA, Villareal G, Dutrem MT, Cahill LT, Wachtel S. Gonadotropin dynamics in XX males. J Clin Endocrinol Metab. 1981 Aug;53(2):254-7. doi: 10.1210/jcem-53-2-254.
- Turunç, T. 46, xx testiküler bozukluk. Androloji Bülteni, 2014;16(59), 274-279.
Toplam 12 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | İç Hastalıkları |
| Bölüm | Case Reports |
| Yazarlar | |
| Erken Görünüm Tarihi | 28 Nisan 2023 |
| Yayımlanma Tarihi | 29 Nisan 2023 |
| Gönderilme Tarihi | 8 Aralık 2022 |
| Yayımlandığı Sayı | Yıl 2023 Cilt: 3 Sayı: 2 |
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