RESUMO
OBJECTIVE: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, and other features. Most girls with TS require oestrogen replacement for pubertal induction. There is paucity of data in adult TS on pubertal outcomes, including breast satisfaction. Here, we assess breast satisfaction in TS with the BREAST-Q questionnaire, a well-validated patient-related outcome measure (PROM). DESIGN: International survey distributed online through TS support groups. PATIENTS: Adult women aged 18-45 years with TS (self-reported). MEASUREMENTS: The questionnaire contained demographics, health history and the four domains of the BREAST-Q. BREAST-Q scores were matched on a one-to-one basis for age, body mass index (BMI) and educational background to a normative data set derived from the 'Army of Women', an online community of healthy volunteers. RESULTS: Of 97 total responses, 74 could be matched to the control cohort. Median age was 32 years (18-45 years) and 97% were White Caucasian. Median age at menarche was 15.5 years (12-34 years), 86% had received pubertal induction therapy as teenagers. We found significantly lower BREAST-Q scores in TS in the domains 'Satisfaction with Breast' (p = .021), 'Psychosocial Wellbeing' (p < .0001) and 'Sexual Wellbeing' (p < .0001). TS who had received oestrogen replacement therapy reported lower scores compared to TS who had not received oestrogen therapy (p < .0001). Lower BMI and previous growth hormone therapy were associated with lower breast satisfaction. CONCLUSIONS: TS women who received oestrogen replacement for pubertal induction self-report lower breast satisfaction scores and late menarche, suggesting that type, mode of delivery, dose and timing of hormone supplements merit prospective study.
Assuntos
Síndrome de Turner , Humanos , Adulto , Feminino , Adolescente , Síndrome de Turner/tratamento farmacológico , Estudos ProspectivosRESUMO
INTRODUCTION: Autosomal recessive forms of pseudohypoaldosteronism are caused by genetic defects in the epithelial sodium channel. Little is known about the long-term outcome and medication needs during childhood and adolescence. OBJECTIVE: This study reports a single-centre experience of children affected with this ultra-rare condition over a 37-year period. METHODS: We report the clinical presentation, growth, neuro-development, associated conditions, mortality and medication dosing and administration for 12 affected children from eight families. RESULTS: All children were presented within the first 2 weeks of life with life-threatening, severe hyperkalaemia and hyponatraemia. All parents were consanguineous and of South Asian, Middle Eastern or African ethnic origin. Eight children had homozygous mutations in the SCNN1A and SCNN1G genes, encoding the epithelial sodium channel subunits alpha and gamma, respectively, including one novel mutation. Three children died (25%) and two (16%) had severe neurological impairment post-cardiac arrest secondary to hyperkalaemia. One affected female had a successful pregnancy at the age of 28 years. CONCLUSION: Despite high mortality and morbidity in this condition, survival with normal physical and neurological outcome is possible, justifying intensive management to prevent electrolyte imbalance.