McCune-Albright Syndrome (MAS): Early and Extensive Bone Fibrous Dysplasia Involvement and “Mistaken Identity” Oophorectomy
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Zoran Gucev
ABSTRACT
Background: McCune-Albright syndrome (MAS) is a triad of gonadotropin-independent precocious puberty (GIPP), café-au-lait spots (CALS) and fibrous dysplasia (FD) of bone. The extent of the abnormalities is variable.
Patient and results: We report a 3 year old girl with CALS since infancy, FD diagnosed at age of 2.5 years, and at the age of 3 years vaginal bleeding. The ultrasound revealed a cystic mass of the ovary, surgical pathology found ovarian cyst. LHRH stimulation demonstrated GIPP (LH 9.8 mIU/ml and FSH 8.9 mIU/ml; normal LH 1.8-10, FSH 9-26 mIU/ml). Radiographs and bone scans demonstrated FD in multiple bones. Peripheral leucocytes and the ovary were negative for GNAS gene mutations. Treatment with Letrasole interrupted the pubertal development.
Conclusions: We conclude that the clinical signs of MAS are telling and that timely MAS diagnosis prevents unnecessary oophorectomy. A close follow up is recommended regarding development of endocrine disorders and spreading of FD.
© Freund Publishing House Ltd. 2010
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Articles in the same Issue
- Selection of Elite Athletes, Hormones and Genes
- Association of Serum Adiponectin Levels with Artherosclerosis and the Metabolic Syndrome in Obese Children
- Septo-optic Dysplasia
- Hyperandrogenism among Elite Adolescent Female Athletes
- Confirmation of Neonatal Screening: Reference Intervals and Evaluation of Methodological Changes in TSH Measurement
- Antihyperlipidemic Agents Cause a Decrease in von Willebrand Factor Levels in Pediatric Patients with Familial Hyperlipidemia
- GHR and VDR Genes do not Contribute to the Growth Hormone (GH) Response in GH Deficient and Turner Syndrome Patients
- Is BaF3 Bioassay Useful to Identify Patients with Bioinactive Growth Hormone?
- Genital Surgery for Disorders of Sex Development: Implementing a Shared Decision-Making Approach
- Mean Platelet Volume in Obese Adolescents with Nonalcoholic Fatty Liver Disease
- Congenital Hypothyroidism: Etiology
- Familial Hyperinsulinism-Hyperammonemia Syndrome in a Family with Seizures: Case Report
- Genital Sanguineous Discharge in Prepuberty: A Case of Mullerian Papilloma of Vagina in a 9 Year-Old Girl
- Glycogen Storage Disease Type III with Hypoketosis
- McCune-Albright Syndrome (MAS): Early and Extensive Bone Fibrous Dysplasia Involvement and “Mistaken Identity” Oophorectomy
- Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
