[Precocious puberty in the McCune-Albright Syndrome: a case report].

McCune-Albright Syndrome is a rare condition with a clinical diagnosis, typically suspected when the classic triad is present: café-au-lait spots, fibrous dysplasia of bone and endocrinopathy. Therapeutic management depends on the endocrine involvement and the severity of bone disease. We here report an original case of a 2-year and 8-month-old girl presenting with precocious puberty revealing McCune-Albright syndrome. The diagnosis was suspected due to premature menarche and premature thelarche associated with café-au-lait spots. Biochemically, estradiol levels were elevated at 179 ng/ml with low FSH and LH levels. ALHRH test demonstrated a flat FSH LH profile with a peak LH/FSH ratio < 1, confirming the peripheral origin of precocious puberty. X-ray of the wrist showed a heterogeneous bone texture suggestive of fibrous dysplasia. To control vaginal bleeding and reduce hyperestrogenism, treatment with third-generation aromatase inhibitors "Letrozole" was prescribed with good clinical and biochemical outcome. This study highlights the importance of thorough clinical examination including skin and mucosal examination in any case of precocious puberty to ensure accurate etiological diagnosis and appropriate treatment.

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Journal
PubMed
Published
2025-01-01
DOI
https://doi.org/10.11604/pamj.2025.51.20.44747
Primary Topic
Law, AI, and Intellectual Property
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article
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article

[Precocious puberty in the McCune-Albright Syndrome: a case report].

Dounia Talbi, Hinde Iraqi, Kaoutar Rifai, Kaoutar El Moatamid et al.
PubMed
Law, AI, and Intellectual Property
article

[Precocious puberty in the McCune-Albright Syndrome: a case report].

Dounia Talbi, Hinde Iraqi, Kaoutar Rifai, Kaoutar El Moatamid, M.E.H. Gharbi
article en

Abstract

McCune-Albright Syndrome is a rare condition with a clinical diagnosis, typically suspected when the classic triad is present: café-au-lait spots, fibrous dysplasia of bone and endocrinopathy. Therapeutic management depends on the endocrine involvement and the severity of bone disease. We here report an original case of a 2-year and 8-month-old girl presenting with precocious puberty revealing McCune-Albright syndrome. The diagnosis was suspected due to premature menarche and premature thelarche associated with café-au-lait spots. Biochemically, estradiol levels were elevated at 179 ng/ml with low FSH and LH levels. ALHRH test demonstrated a flat FSH LH profile with a peak LH/FSH ratio < 1, confirming the peripheral origin of precocious puberty. X-ray of the wrist showed a heterogeneous bone texture suggestive of fibrous dysplasia. To control vaginal bleeding and reduce hyperestrogenism, treatment with third-generation aromatase inhibitors "Letrozole" was prescribed with good clinical and biochemical outcome. This study highlights the importance of thorough clinical examination including skin and mucosal examination in any case of precocious puberty to ensure accurate etiological diagnosis and appropriate treatment.

PubMedVol. 51
Mohammed V University (MA)
Openalex Percentile: Top 91%
Law, AI, and Intellectual Property
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