Precocious puberty in Costello syndrome: case report.

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Background: Costello syndrome(CS) is a rare autosomal dominant genetically transmitted disease, with: macrocephaly, coarse face with hypertelorism, epicanthal folds, prominent eyes, short nose, low-set ears, large mouth, short stature and failure to thrive, curly hairs, macro glossy, short neck, hyperkeratosis, hyperpigmentation, papillomata around the anus, mouth and nares, thick and loose skin of the hands and feet, cardiomyopathy, mental retardation, increased neoplastic risk. The majority of patients (80-90%) with CS have denovo heterozygous mutations in the HRAS gene (11p15.5). Sporadic cases with GH deficiency are described, even if GH treatment is non clearly associated to a significant gain in growth. However GH treatment could deteriorate hypertrophic cardiomiopathy and increaseneoplastic risk. We describe the case of a girl with CS genetically diagnosed, who showed mild mental retardation, hypertrophic cardiomiopathy, aortic stenosis, short stature, hypoplastic nails, coarse facies, short neck, papillomata around the anus, mouth and nares.Results: She underwent to endocrine follow-up, to evaluate short stature, and a precocious puberty with insurance at 7 years. She presented a bone age of 11 years, pubertal stage: PH2B3, vaginal bleeding, FSH/LH T0 and after LHRH: 7,1/21,4 e 1,7/9,3; Magnetic Resonance Imaging negative, increased uterine and ovarian volume, with multifollicular ovaries. She started LHRH analog treatment to delay boneage maturation, menses and pubertal development, and to inhibit LH and FSH. Actually she is 10,1 years, stature: 123 cm, -2,7 DS; weight: 32,5 kg; -0,8 DS; bone age: 12 years, pubertal stage: PH1B2.Conclusions: We signal this case for the original relieve of precocious puberty in CS, otherwise frequently described in association with delayed puberty, on average at 15 years. LHRH analog treatment ameliorated growth prognosis in a patient not eligible for GH treatment.
Lingua originaleEnglish
Numero di pagine0
RivistaHormone Research in Paediatrics
Stato di pubblicazionePublished - 2012


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