Endocrine Abstracts

Introduction/ objectives: Turner syndrome (TS) comprises a group of sex chromosomal abnormalities of heterogeneous clinical presentation. During the infant period, the pediatric endocrinologist coordinates their follow-up and it is important to ensure its continuation during the adult stage. The objective of this study is to know the current clinical situation, occupational, educational, social and medical monitoring of patients affected TS in Tenerife.

Material and methods: Retrospective study of the clinical parameters evaluated during the follow-up in consultation of the patients affected with TS in our center (n=19). Telephone interview in which demographic data, employment and educational status, current health and medical follow-up were asked.

Results: Age 36.3±9.2 years. Karyotype: mosaicism (47.4%); 45X0 (52.6%). All patients were treated with growth hormone (GH): age of onset 10.1±4.1 years, dose 40.2±9.5 μg/kg per day; duration 6.5±2.7 years, bone age of suspension 14.7±0.7 years. Final adult size of 151±7.9 cm. They received treatment with oxandrolone 36.8%. Pubertal induction was performed in 94.7% of patients: age of onset 11.9±0.8 years, bone age of onset 13.4±1.9 years, age of menarche 15.6±2.7 years. Most common disorder: hypogonadism (94.7%), osteoporosis/ osteopenia (52.6%), hypothyroidism (52.6%), obesity (42.1%), dyslipidemia (42.1%), nephrolithiasis (26.3%), hypertension (21.1%), otitis of recurrence (21.1%), congenital lymphedema (21.1%). Clinical follow-up: endocrinology (47.4%), gynecology (31.6%), primary care (21%). Educational level: primary (23%), secondary/ vocational training (38.5%), university (38.5%). Occupationally active (92.3%). Residence: family (61.5%), couple (23.1%), single (15.4%). Couple currently (23.1%) and offspring (10.5%). Lifestyle: ex-smokers (21.1%), exercise (30.8%).

Conclusions: The results obtained in our sample of adult final height in patients treated with GH do not differ from the results described in other series. The doses of GH, duration of treatment and age of pubertal induction are adapted to the guidelines of management of patients with TS. The most prevalent pathology is hypogonadism followed by osteoporosis and hypothyroidism. The follow-up is heterogeneous. There is a greater tendency towards parental dependence and absence of a partner.