Abstract
Giriş ve Amaç: Mikropenis özellikle toplumumuzda ailelerin duyarlı olduğu, çoğu zaman da etyolojiyi saptayamadığımız bir problemdir. Mikropenis etyolojisinde sitogenetik çalışma çoğu kez ertelenebilmektedir. Bu çalışmada mikropenisli olgularda sık görülen nedenler dışlandıktan sonra karyotip anomalilerinin varlığının araştırılması amaçlandı. Olgular ve Yöntem: Çalışmaya 2008–2009 yılları arasında çocuk endokrinoloji polikliniğinde mikropenis tanısı alan 52 puberte öncesi olgu alındı. Gerilmiş penis boyları aynı endokrinoloji uzmanı tarafından ölçüldü ve 10. persentil altında olanlar mikropenis kabul edildi. Mikropenisli tüm olguların bazal ve LH-RH ile uyarılmış serum LH ve FSH düzeyleri, serum testosteron seviyeleri immüno-chemilüminometrik assay (ICMA) yöntemiyle değerlendirildi. İlaveten ön hipofi z hormonları (ACTH, TSH, PRL) denetlendi. Hormonal sonuçları normal olan hastalardan standart sitogenetik inceleme yapıldı. Bulgular: Olguların yaş aralığı 7–10.5 yıl olup tümü puberte öncesiydi. LH-RH uyarı testine ortalama zirve LH 4.4 ±1.2 mlU/L, zirve FSH 7.1± 2.2 mlU/L, serum testosteron düzeyi < 20 ng/dl bulundu. Olguların serum ACTH, kortizol, PRL, TSH ve sT4 düzeyleri normaldi. Hiçbir olguda patolojik boy kısalığı olmadığından büyüme hormon uyarı testi yapılması gerekmedi. 52 olgunun sitogenetik analizi sonucu 2 olguda 47, XXY karyotip anomalisi (Klinefelter Sendromu) saptandı. Sonuç: Bu çalışma ile çocukluk çağında mikropenis varlığında daha yaygın görülen nedenler araştırıldıktan sonra sitogenetik çalışmanın yapılmasının kromozom anomalilerinin erken saptanması bakımından önemli olduğu sonucuna varıldı. Bu konuda net bir sonuca ulaşabilmek için daha fazla çalışmaya ihtiyaç duyulmaktadır.
Keywords
References
- Schonfeld WA. Normal growth and variation in the male genitalia from birth to maturity. J Urol 1942; 48: 759–777.
- Feldman KW, Smith DW. Fetal phallic growth and penile standarts for newborn male infants. J Pediatr 1975; 86: 395–398.
- Smith DP, Rickman C, Jerkins GR. Ultrasound evaluation of nor- mal penile (corporeal) length in children. J Urol 1995; 154: 822– 844.
- Menon PS, Khatwa UA. The child with micropenis. Indian J Pediatr 2000; 67: 455–460.
- Levy JB, Husmann DA. Micropenis secondary to growth hormo- ne deficiency: does treatment with growth hormone alone result in adequate penile growth. J Urol 1996; 156: 214–216.
- Ludwig G. Micropenis and apparent micropenis-a diagnostic and therapeutic challenge. Andrologia 1999; 31: 27–30.
- Aaronson IA. Micropenis: medical and surgical implications. J Urol 1994; 152: 4–14.
- Neyzi O, Günöz H, Furman A, Bundak R, Gökçay G, Darendeliler F, Baş F. Türk çocuklarında vücut ağırlığı, boy uzunluğu, baş çev- resi ve vücut kitle indeksi referans değerleri. Çocuk Sağlığı ve Hastalıkları Dergisi 2008; 51: 1–14.
- Neely EK, Hintz RL, Wilson DM, Lee PA, Gautier T, Argente J, Stene M. Normal ranges for immunochemiluminometric gonadot- ropin assays. J Pediatr. 1995; 127: 40–46.
- Çetinkaya S. Mikropenis. Dicle Tıp Derg 2009; 36; 323–328.
- Favorito LA, Cardinot TM, Morais AR, Sampaio FJ. Urogenital anomalies in human male fetuses. Early Hum Dev 2004; 79: 41– 47.
- Bergada C, Cleveland WW, Jones HW Jr, Wılkıns L. Variants of embryonic testicular dysgenesis: bilateral anorchia and the syndro- me of rudimentary testes. Acta Endocrinol (Copenh). 1962; 40: 521–536.
- Hung W, Ferguson EE, Wıgger HJ. Seminiferous tubule dysgene- sis in a fourteen-year-old prepubertal boy with microphallus. Med Ann Dist Columbia. 1963; 32: 278–280.
- Mandoki MW, Sumner GS, Hoffman RP, Riconda DL. A review of Klinefelter’s syndrome in children and adolescents. J Am Acad Child Adolesc Psychiatry 1991; 30: 167–172.
- Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006; 24; 1: 42.
- Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA. Genital ano- malies in Klinefelter’s syndrome. Horm Res 2007;68: 150–155.
- Lee PA, Danish RK, Mazur T, Migeon CJ. Micropenis. III. Primary hypogonadism, partial androgen insensitivity syndrome, and idio- pathic disorders. Johns Hopkins Med J 1980;147:175–181.
- Vanelli M, Chaussain JL, Vassal J, Job JC. Insufficiency of penis development (micropenis). Etiological data in a series of 25 cases. Arch Fr Pediatr 1979; 36: 471–478.
- Berberoğlu M, Öcal G, Akçurin S. Erkek Hipogonadizmli Olguların Klinik Dökümü. Türkiye Klinikleri Pediatri Dergisi 1992;1:106– 109.
Abstract
Aim and Object: Micropenis is a problem that family of the patients are too sensitive especially in our society and etiology can not be detected in most of the cases. Cytogenetic studies often might be delayed in the etiology of micropenis. The aim of the study was to investigate chromosome abnormalities, after frequent reasons of micropenis were eliminated. Patients and Method: This study involved 52 prepubertal cases diagnosed as having micropenis in outpatient clinic of Pediatric Endocrinology Department between 2008 and 2009. Stretched penile length was measured by the same endocrinologist and if the lenght of the penis <10th percentile, it was accepted as micropenis. LHRH stimulated serum LH, FSH, and serum testosterone levels were studied by immuno-chemiluminometric assay (ICMA) method for all patients with micropenis. Additionally, the anterior pituitary hormones; ACTH, TSH, PRL; were also checked. Standard cytogenetic analysis was performed for all patients with normal hormonal test results.Results: Patients’ age was between 7–10.5 years and all of them were in prepubertal period. The mean peak levels of LH-RH stimulation test were 4.4±1.2 mlU/L for LH and 7.1±2.2 mlU/L for FSH. Serum testosterone level was <20 ng/dl. Serum ACTH, cortisol, PRL, TSH and fT4 levels were all normal range. Growth hormone stimulation test was not performed since none of the cases had pathological short stature. After investigation of cytogenetic analysis for 52 cases, karyotype abnormality (47, XXY; Klinefelter Syndrome) were determined in 2 cases. Conclusion: It is concluded that cytogenetic study is important to detect chromosomal abnormalities in the cases of micropenis after the common causes of micropenis are investigated. Cytogenetic study can discover cytogenetic abnormalities in the early phase of the etiological investigation. More studies are needed in this subject to become a clear conclusion
Keywords
References
- Schonfeld WA. Normal growth and variation in the male genitalia from birth to maturity. J Urol 1942; 48: 759–777.
- Feldman KW, Smith DW. Fetal phallic growth and penile standarts for newborn male infants. J Pediatr 1975; 86: 395–398.
- Smith DP, Rickman C, Jerkins GR. Ultrasound evaluation of nor- mal penile (corporeal) length in children. J Urol 1995; 154: 822– 844.
- Menon PS, Khatwa UA. The child with micropenis. Indian J Pediatr 2000; 67: 455–460.
- Levy JB, Husmann DA. Micropenis secondary to growth hormo- ne deficiency: does treatment with growth hormone alone result in adequate penile growth. J Urol 1996; 156: 214–216.
- Ludwig G. Micropenis and apparent micropenis-a diagnostic and therapeutic challenge. Andrologia 1999; 31: 27–30.
- Aaronson IA. Micropenis: medical and surgical implications. J Urol 1994; 152: 4–14.
- Neyzi O, Günöz H, Furman A, Bundak R, Gökçay G, Darendeliler F, Baş F. Türk çocuklarında vücut ağırlığı, boy uzunluğu, baş çev- resi ve vücut kitle indeksi referans değerleri. Çocuk Sağlığı ve Hastalıkları Dergisi 2008; 51: 1–14.
- Neely EK, Hintz RL, Wilson DM, Lee PA, Gautier T, Argente J, Stene M. Normal ranges for immunochemiluminometric gonadot- ropin assays. J Pediatr. 1995; 127: 40–46.
- Çetinkaya S. Mikropenis. Dicle Tıp Derg 2009; 36; 323–328.
- Favorito LA, Cardinot TM, Morais AR, Sampaio FJ. Urogenital anomalies in human male fetuses. Early Hum Dev 2004; 79: 41– 47.
- Bergada C, Cleveland WW, Jones HW Jr, Wılkıns L. Variants of embryonic testicular dysgenesis: bilateral anorchia and the syndro- me of rudimentary testes. Acta Endocrinol (Copenh). 1962; 40: 521–536.
- Hung W, Ferguson EE, Wıgger HJ. Seminiferous tubule dysgene- sis in a fourteen-year-old prepubertal boy with microphallus. Med Ann Dist Columbia. 1963; 32: 278–280.
- Mandoki MW, Sumner GS, Hoffman RP, Riconda DL. A review of Klinefelter’s syndrome in children and adolescents. J Am Acad Child Adolesc Psychiatry 1991; 30: 167–172.
- Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006; 24; 1: 42.
- Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA. Genital ano- malies in Klinefelter’s syndrome. Horm Res 2007;68: 150–155.
- Lee PA, Danish RK, Mazur T, Migeon CJ. Micropenis. III. Primary hypogonadism, partial androgen insensitivity syndrome, and idio- pathic disorders. Johns Hopkins Med J 1980;147:175–181.
- Vanelli M, Chaussain JL, Vassal J, Job JC. Insufficiency of penis development (micropenis). Etiological data in a series of 25 cases. Arch Fr Pediatr 1979; 36: 471–478.
- Berberoğlu M, Öcal G, Akçurin S. Erkek Hipogonadizmli Olguların Klinik Dökümü. Türkiye Klinikleri Pediatri Dergisi 1992;1:106– 109.
Details
| Other ID | JA28ET26UA |
|---|---|
| Journal Section | Research Article |
| Authors | |
| Publication Date | April 1, 2010 |
| Submission Date | April 1, 2010 |
| Published in Issue | Year 2010 Volume: 4 Issue: 4 |
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