When should I refer a patient with Turner Syndrome to a specialist for further management, such as endocrinology or genetics?

Referral of patients with Turner syndrome to specialists such as endocrinology or genetics should occur early in the diagnosis and management process. This is because Turner syndrome involves complex multisystem issues including growth, pubertal development, cardiovascular risks, and potential genetic counseling needs.

Specifically, referral to endocrinology is indicated for management of growth failure, delayed or absent puberty, and hormone replacement therapy. Genetic referral is appropriate for confirmation of diagnosis, family counseling, and assessment of associated genetic risks.

In primary care, if Turner syndrome is suspected or diagnosed, prompt referral to specialist services is recommended to ensure multidisciplinary care including endocrinology and clinical genetics.