Abstract
Ailevi Testotoksikoz LH reseptöründe aktive edici mutasyon nedeniyle testislerin otoaktivasyon kazanması sonucu ortaya çıkan gonodotropin bağımlı olmayan yalancı erken puberte nedenidir. 2 yaş 3 aylık erkek hasta, kliniğimize genital bölgede kıllanma şikayetiyle başvurdu. Babada ve babanın erkek kuzenlerinde erken puberte öyküsü mevcuttu. Cilt ve sistem muayeneleri normal olan hastanın testis volumleri bilateral 4 ml, gerilmiş penis boyu 4.5 cm, pubik kıllanması Tanner evre 2’di. Testosteron seviyeleri pubertal düzeyde olmasına rağmen bazal ve uyarılmış LH seviyeleri prepubertaldi. Hasta aile öyküsü ile birlikte değerlendirildiğinde klinik ve biyokimyasal olarak ailevi testotoksikoz tanısı aldı.Vaka nadir görülmesi nedeni ile sunuldu.
Keywords
References
- Lee P, Houk C. Puberty and Its Disorders. In : Lifshitz F, (ed). Pediatric Endocrinology. Fifth edition. İnforma healthcare USA, Inc; 2007:277-303
- Eugster EA. Peripheral precocious puberty: Causes and management. Hormone Research 2009;71:64-7.
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- Öcal G. Erken Puberte. In: Günöz H, Öcal G,Yordam N, Kurtoğlu S, (eds). Pediatrik Endokrinoloji ve Oksikoloji Derneği. Ankara: Kalkan Matbaacılık, 2003:155-88.
- Englund AT, Geffner ME, Nagel RA, Lippe BM, Braunstein GD. Pediatric germ cell and human chorionic gonadotropin-producing tumors. Clinical and laboratory features. Am J Dis Child 1991; 145:1294-7.
- Happle R. The McCune-Albright syndrome: A lethal gene surviving by mosaicism. Clin Genet 1986;29:321-4.
- Iqbal MZ, Saleem M, Shahzad ZA. A case of van wyk-grumbach syndrome. APSP J Case Rep 2013;4(2):24.
Abstract
Testotoxicosis arises from testicular autoactivation due to LH receptor activating mutations and is a cause of false gonadotropin-independent precocious puberty. A male child aged 2 years and 3 months was admitted to our clinic with pubic hair in the genital area. He had a family history of precocious puberty in the father and the father’s male cousins. On physical examination skin and systemic fi ndings were normal, bilateral testis volume was 4 ml, stretched penile length was 4.5 cm, and pubic hair was Tanner stage 2. Although the testosterone levels were pubertal, baseline and stimulated LH levels were prepubertal.The patient was diagnosed with testotoxicosis with the family history, and clinical and biochemical evaluation.The case was presented because of its rarity
References
- Lee P, Houk C. Puberty and Its Disorders. In : Lifshitz F, (ed). Pediatric Endocrinology. Fifth edition. İnforma healthcare USA, Inc; 2007:277-303
- Eugster EA. Peripheral precocious puberty: Causes and management. Hormone Research 2009;71:64-7.
- Carel JC, Léger J. Clinical practice. Precocious puberty. N Engl J Med 2008; 358:2366-77.
- Öcal G. Erken Puberte. In: Günöz H, Öcal G,Yordam N, Kurtoğlu S, (eds). Pediatrik Endokrinoloji ve Oksikoloji Derneği. Ankara: Kalkan Matbaacılık, 2003:155-88.
- Englund AT, Geffner ME, Nagel RA, Lippe BM, Braunstein GD. Pediatric germ cell and human chorionic gonadotropin-producing tumors. Clinical and laboratory features. Am J Dis Child 1991; 145:1294-7.
- Happle R. The McCune-Albright syndrome: A lethal gene surviving by mosaicism. Clin Genet 1986;29:321-4.
- Iqbal MZ, Saleem M, Shahzad ZA. A case of van wyk-grumbach syndrome. APSP J Case Rep 2013;4(2):24.
Details
| Other ID | JA34GH57KB |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | June 1, 2014 |
| Submission Date | June 1, 2014 |
| Published in Issue | Year 2014 Volume: 8 Issue: 3 |
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication, with at least 6 original articles in each issue, taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
The aim of the Turkish Journal of Pediatrics is to publish high-quality original research articles that will contribute to the international literature in the field of general pediatric health and diseases and its sub-branches. It also publishes editorial opinions, letters to the editor, reviews, case reports, book reviews, comments on previously published articles, meeting and conference proceedings, announcements, and biography. In addition to the field of child health and diseases, the journal also includes articles prepared in fields such as surgery, dentistry, public health, nutrition and dietetics, social services, human genetics, basic sciences, psychology, psychiatry, educational sciences, sociology and nursing, provided that they are related to this field. can be published.