Snapshot A 15-year-old girl presents to her primary care physician due to lack of breast development, which is causing her emotional distress. She denies any headache, vision changes, or focal motor or sensory deficits. Physical examination is notable for a short stature and shield chest. Bone age appears to be that of a 12-year-old girl. Serum testing is remarkable for an elevated FSH and LH with decreased serum estradiol and karyotyping demonstrates 45,XO. (Turner syndrome) Introduction Overview in girls the absence of breast development by 12 years of age in boys the absence of testicular enlargment by 14 years of age causes of delayed puberty can be divided into primary hypogonadism login to view 7 more bullets secondary hypogonadism login to view 12 more bullets Epidemiology Risk factors family history of delayed puberty poor nutrition excessive exercises chronic illness (e.g., inflammatory bowel disease) ETIOLOGY Pathogenesis primary hypogonadism hypergonadotrophic hypogonadism login to view 1 more bullet secondary hypogonadism hypogonadotrophic hypogonadism login to view 6 more bullets Presentation Symptoms depends on the underlying cause e.g., patients with a large prolactinoma may experience headache and visual field deficits Physical exam in boys lack of testicular enlargement (testicular volume of < 4 mL) by age 14 in girls lack of breast buds by age 12 lack of acne, facial hair, or pubic hair may be a sign of adrenarche rather than true puberty Imaging Radiography indication initial imaging study in the workup of delayed puberty login to view 2 more bullets MRI of the brain with gadolinium indication patients with delayed puberty and neurologic symptoms (e.g., headache and vision changes) Studies Labs serum initial studies login to view 3 more bullets thyroid-stimulating hormone (TSH) and free thyroxine (T4) prolactin Treatment Treatment should directed at the underlying cause, for example bromocriptine in patients with prolactinoma weight gain in patients with anorexia nervosa watchful monitoring Complications Lower self-esteem due to teasing in school Increased risk of fracture secondary to decreased bone mineral density Prognosis the height of boys or girls with constitutional delay of puberty may be slightly lower than their genetic potential