ESPE Abstracts

Introduction: Turner syndrome is one of the most common chromosomal anomalies occurring in approximately 1 in 1500 live-births females (1), resulting from the partial or complete absence of X-chromosome. It is associated to several skeletal abnormalities including short stature, delayed skeletal maturation, angular deformities of the limbs, spinal deformity, and early-onset osteoporosis. This study aims to evaluate the prevalence of these skeletal manifestations and describe phosphocalcic profile among Turner syndrome patients.

Methods: This is a retrospective descreptive study that took place in the Endocrinology department of a university hospital center, between 2016 and 2024, including 23 patients who have been hospitalized in the department for a Turner syndrome. Statistical analysis of the data was performed using SPSS version 21 software.

Results: The average age at diagnosis in our patients was 16±12 years, 74% of them were diagnosed during childhood and adolescence. Reasons of the consultation were dominated by shorte stature in 60,9 % of cases, followed by amenorrhea in 26,1%. A dysmorphic syndrom was found in 43,5% of cases. Fourty-three percent of cases had skeletal abnormalities including scoliosis in 8,7%, cubitus valgus in 26%, Kyphosis in 4,3% and bradymetacarpia in 4,3% of cases. Short legs were found in 39% of patients. All patients had a normal calcemia with a mean of 95±4 mg/l, 35% had hyperphosphatemia with an average of plasmatic phosphatemia of 47,5 ± 11,6 mg/l. Vitamin D deficiency was described in all patients with a mean of 17,5 ± 6,3 ng/ml. Osteoporosis of spine and femur was observed in 26% of cases.

Disscussion-Conclusion: Short stature is the most common skeletal manifestation in patients with Turner syndrome. Its incidence ranges from 88% to 100%. All other skeletal abnormalities have less than 60% incidences (including cubitus valgus, short metacarpals, short neck, high-arched palate, and micrognathia). (2,3) Deformities of the upper and lower extremities found in Turner syndrome may be evident on clinical examination, but rarely require surgical management unless they become symptomatic. Early hormone replacement therapies may enhance future bone health and decrease fragility fractures risk in this population. 1- Batch J: Turner syndrome in childhood and adolescence. Best Pract Res Clin Endocrinol Metab 2002;16:465-482.) 2- Saenger P, Wikland KA, Conway GS, et al: Fifth international symposium on Turner syndrome: Recommendations for the diagnosis and management of turner syndrome. J Clin Endo Metab 2001;86: 3061-3069. 3- Kosho T, Muroya K, Nagai T, et al: Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: Implications for the development of Turner syndrome. J Clin Endocrinol Metab 1999; 84:4613-4621.