ESPE2018 Poster Presentations Multisystem Endocrine Disorders P1 (5 abstracts)
McCune-Albright-Syndrome: Clinical and Genetic Study in a Large Cohort of Pediatric Patients
Nadezhda Makazan , Elizaveta Orlova , Maria Kareva , Natalia Kalinchenko , Anna Kolodkina , Natalia Zubkova , Evgeniy Vasiliev , Anatoly Tiulpakov & Valentina Peterkova
Endocrinology National Medical Research Center, Moscow, Russian Federation
Background: McCune-Albright-Syndrome (MAS) is an extremely rare multisystem disorder that affects bones (fibrous dysplasia), skin (cafe-au-lait spots) and endocrine organs (hyperfunctioning endocrinopathies) and is caused by somatic mutations in GNAS gene.
Materials and methods: We have evaluated 55 pediatric patients (44 girls (G) and 11 boys (B)) diagnosed in the period of 20 years. Mutation analyses using competitive allele-specific TaqMan PCR (CAST-PCR) and next-generation sequencing (NGS) techniques were performed to search for GNAS mutations in DNA from peripheral leukocytes from 39 MAS patients.
Results: The first clinical manifestation was peripheral precocious puberty in 75% of patients (41/55, G), fibrous dysplasia (FD) – in 20% (11/55, 2G, 9 B) and Cushing’s syndrome (CS) in 3 patients (5%, 3/55, 1 G and 2 B). Peripheral precocious puberty, fibrous dysplasia and Cushing’s syndrome were seen in very young patients in the first months of life. GNAS mutations p.R201C and p.R201H were found in 41% (16/39) of patients with MAS. The prevalence and age of clinical manifestations are shown in Table 1.
| Clinical manifestations of MAS | % of patients (n=55, 44 G+11 B) | The age at the time of revealing a clinical finding, y.o. |
| Fibrous dysplasia | 78% (43/55) | 0.9–13 |
| Cafe-au-lait spots | 84% (46/55) | 0–3 |
| Girls: peripheral precocious puberty | 98% (43/44) | 0.2–4.2 |
| Boys: macroorchidism | 64% (7/11) | 1.7–13 |
| Boys: peripheral precocious puberty | 36% (4/11) | 3.7–6 |
| Thyropathies (ultrasound) | 35% (19/55) | 1.5–13 |
| Hyperthyroidism | 13% (7/55) | 1.5–13 |
| Hypophosphatemia | 33% (18/55) | 2–13 |
| Growth hormone (GH) excess | 26% (14/55) | 4–13 |
| Growth hormone-secreting pituitary adenoma | 7% (4/55) | 11.7–13 |
| Cushing’s syndrome | 9% (5/55) | 0.4–1 |
| Tachycardia not associated with hyperthyroidism | 20% (11/55) | 2.5–13 |
Conclusion: MAS can manifest in children at the age less than 1 year with precocious puberty in girls, fibrous dysplasia and Cushing’s syndrome. CAST- PCR and NGS methods are not reliable for identifying patients with clinically uncertain MAS.
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