Turner Syndrome Questions & Answers

Updated: Jul 20, 2018
  • Author: Maala S Daniel, MBBS; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Questions & Answers

Overview

What is Turner syndrome?

What are the signs and symptoms of Turner syndrome?

How does Turner syndrome affect height?

How does Turner syndrome affect puberty?

What are the characteristic physical findings of Turner syndrome?

What is the role of fetal ultrasonography in the diagnosis of Turner syndrome?

What is the role of karyotyping in the diagnosis of Turner syndrome?

What is the role of lab testing in the diagnosis of Turner syndrome?

What is the role of renal studies in the diagnosis of Turner syndrome?

What is the role of cardiovascular studies in the diagnosis of Turner syndrome?

What is the role of audiology in the diagnosis of Turner syndrome?

What screenings should patients with Turner syndrome undergo?

What is the role of growth hormone therapy in the treatment of Turner syndrome?

What is the role of sex hormone replacement therapy in the treatment of Turner syndrome?

Which specialist consultations are beneficial to patients with Turner syndrome?

Which dietary modifications are used in the treatment of Turner syndrome?

What is Turner syndrome?

What is the pathophysiology of Turner syndrome?

What is the prevalence of Turner syndrome in the US?

What is the global prevalence of Turner syndrome?

What is the mortality and morbidity associated with Turner syndrome?

What is the racial predilection of Turner syndrome?

What are the sexual predilections of Turner syndrome?

What is the role of gonadotropin levels in Turner syndrome?

What is the prognosis of Turner syndrome?

Presentation

What are the signs and symptoms of Turner syndrome?

Which physical findings are characteristic of Turner syndrome?

What are the prenatal signs of Turner syndrome?

What causes Turner syndrome?

DDX

What are the differential diagnoses for Turner Syndrome?

Workup

What is the role of karyotype analysis in the workup of Turner syndrome?

What is the role of a Y-centromeric probe in the diagnosis of Turner syndrome?

What is the role of gonadotropin measurement in the diagnosis of Turner syndrome?

What is the role of thyroid function tests in the diagnosis of Turner syndrome?

What is the role of glucose testing in the diagnosis of Turner syndrome?

Which lab tests are performed as part of routine health maintenance in patients with Turner syndrome?

What does virilization indicate in the evaluation of Turner syndrome?

What is the role of diabetes mellitus testing in the diagnosis of Turner syndrome?

What is the role of ultrasonography in the diagnosis of Turner syndrome?

What is the role of cardiovascular imaging in the diagnosis of Turner syndrome?

What is the significance of bone age in the evaluation of Turner syndrome?

When is bone density testing indicated in the evaluation of Turner syndrome?

What is the role of audiology in the evaluation of Turner syndrome?

Treatment

How is Turner syndrome treated?

What is the role of surgery in the treatment of Turner syndrome?

What is the role of a pediatric endocrinologist in the treatment of Turner syndrome?

What is the role of a cardiologist in the treatment of Turner syndrome?

What is the role of a nephrologist in the treatment of Turner syndrome?

What is the role of a psychologist in the treatment of Turner syndrome?

What is the role of genetic counseling in the treatment of Turner syndrome?

Which dietary modifications are used in the treatment of Turner syndrome?

Which activity modifications are beneficial to patients with Turner syndrome?

Medications

Which medications in the drug class Vitamins and minerals are used in the treatment of Turner Syndrome?

Which medications in the drug class Antihypertensive agents are used in the treatment of Turner Syndrome?

Which medications in the drug class Estrogen replacement therapies are used in the treatment of Turner Syndrome?

Which medications in the drug class Thyroid replacement therapies are used in the treatment of Turner Syndrome?

Which medications in the drug class Anabolic steroids are used in the treatment of Turner Syndrome?

Which medications in the drug class Human growth hormone are used in the treatment of Turner Syndrome?