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Journals / European Journal of General Medicine / 2015 / Cilt: 12 Sayı: 1

Partial Merosin Deficiency and Precocious Puberty

Beray Selver Eklioglu
Nesibe Akyurek
Sevil Arı Yuca
Mehmet Emre Atabek
Pages
1–1
Publication Date
2015-04-27
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We report a case of a child with precocious puberty who was diagnosed with merosin deficiency in infancy.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:The congenital muscular dystrophies (CMD) are autosomal-recessive disorders.
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Key Findings & Data:Classical congenital muscular dystrophy is grouped as merosin-positive and merosin-negative (MN-CMD).
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Conclusion & Impact:We report a case of a child with precocious puberty who was diagnosed with merosin deficiency in infancy.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Erken ergenlik · merozin eksikliği · çocuk

Abstract

The congenital muscular dystrophies (CMD) are autosomal-recessive disorders. Classical congenital muscular dystrophy is grouped as merosin-positive and merosin-negative (MN-CMD). Precocious puberty is idiopathic and is related to premature release of gonadotrophins. So far, the association between merosin deficiency and precocious puberty has not been identified. We report a case of a child with precocious puberty who was diagnosed with merosin deficiency in infancy.

Özet

Konjenital müsküler distrofiler (CMD) otozomal resesif kalıtılan hastalıklardır. Klasik konjenital müsküler distrofi merosinpozitif ve merosin-negatif olarak gruplandırılır (MN-CMD). Kızlarda puberte prekoks 1969 yılında Marshal ve Tanner tarafından tanımlanmıştır. Olguların çoğunda, puberte prekoks idiyopatiktir ve gonadotropinlerin erken salınımı ile ilgilidir. Şimdiye kadar, merosin eksikliği ve puberte prekoks arasındaki ilişki tanımlanmamıştır. Bu yazıda infantil dönemde merosin eksikliği tanısı konulan puberte prekokslu bir çocuğu sunduk

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Cite This Article

Eklioglu, B. S., Akyurek, N., Yuca, S. A., Atabek, M. E. (2015). Partial Merosin Deficiency and Precocious Puberty. European Journal of General Medicine, Cilt: 12 Sayı: 1, 1–1. https://doi.org/10.15197/sabad.1.12.18

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References (4)

  1. Tomé FM, Evangelista T, Leclerc A, et.al.Congenital mus- cular dystrophy with merosin deficiency. C R Acad Sci III 1994;317(4):351-7.
  2. Hillaire D, Leclerc A, Fauré S, et.al. Localization of me- rosin-negative congenital muscular dystrophy to chro- mosome 6q2 by homozygosity mapping. Hum Mol Genet 1994;3(9):1657-61.
  3. Gilhuis HJ, ten Donkelaar HJ, Tanke RB, et.al.Nonmuscular involvement in merosin-negative congenital muscular dystrophy. Pediatr Neurol 2002;26(1):30-6. Eklioglu et al.
  4. Eur J Gen Med 2015;12(1): 90-92 92