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Journals / Journal of Clinical Research in Pediatric Endocrinology / 2015 / Cilt: 7 - Sayı: 3

Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene

Bahar ÖZCABI
Feride Tahmiscioğlu BUCAK
Serdar CEYLANER
RAHŞAN ÖZCAN
Cenk BÜYÜKÜNAL
OYA ERCAN
BEYHAN TÜYSÜZ
SAADET OLCAY EVLİYAOĞLU
Pages
242–248
DOI
—
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AI Summary & Key Takeaways

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

Short-term results were better with ketoconazole

📌 3 Key Takeaways

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Objective & Hypothesis:Testotoxicosis is a rare disorder which presents as isosexual peripheral precocious puberty in males.
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Key Findings & Data:Due to activating mutation in luteinizing hormone (LH))/choriogonadotropin receptor (LHCGR) gene, early virilization and advancement in bone age are common with increased serum testosterone levels above adult ranges, despite low LH and follicularstimulating hormone (FSH) levels.
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Conclusion & Impact:Short-term results were better with ketoconazole
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Testotoxicosis is a rare disorder which presents as isosexual peripheral precocious puberty in males. Despite the pattern of autosomal dominant inheritance, sporadic cases also may occur. Due to activating mutation in luteinizing hormone (LH))/choriogonadotropin receptor (LHCGR) gene, early virilization and advancement in bone age are common with increased serum testosterone levels above adult ranges, despite low LH and follicularstimulating hormone (FSH) levels. There are different treatment regimens, such as combination of bicalutamide (antiandrogen agent) and a third-generation aromatase inhibitor, that are reported to be well-tolerated and successful in slowing bone age advancement and preventing progression of virilization. We report here two patients who presented with peripheral precocious puberty and an activating mutation in the LHCGR gene: one with a family history and previously determined mutation and the other without family history and with a novel mutation (c.830G>T). Combination of bicalutamide+anastrozole was ineffective in slowing pubertal progression and bone age. Short-term results were better with ketoconazole

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Cite This Article

ÖZCABI, B., BUCAK, F. T., CEYLANER, S., ÖZCAN, R., BÜYÜKÜNAL, C., ERCAN, O., TÜYSÜZ, B., EVLİYAOĞLU, S. O. (2015). Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 7 - Sayı: 3, 242–248. https://ajindex.com/articles/219014

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