pediatrics
Turner Syndrome
Symptoms and Signs of Turner Syndrome
Many neonates are very mildly affected; however, some present with marked dorsal lymphedema of the hands and feet and with lymphedema or loose folds of skin over the back of the neck. Other frequent anomalies include a webbed neck and a broad chest with widely spaced and inverted nipples. Affected girls often are short in stature compared with family members, and obesity is common. Less common findings include a low hairline on the back of the neck, ptosis, multiple pigmented nevi, short 4th metacarpals and metatarsals, prominent finger pads with whorls in the dermatoglyphics on the ends of the fingers, and hypoplasia of the nails. Increased cubitus valgus (carrying angle) at the elbow occurs. This photo shows webbed neck (frontal view) in a patient with Turner syndrome. MID ESSEX HOSPITAL SERVICES NHS TRUST/SCIENCE PHOTO LIBRARY This image shows a 13-year-old girl with typical physical characteristics of Turner syndrome such as short stature, stocky build, broad chest with widely spaced nipples and lack of breast development, and cubitus valgus. By permission of the publisher. From Shulman D, Bercu B:Atlas of Clinical Endocrinology: Neuroendocrinology and Pituitary Disease. Edited by S Korenman (series editor) and ME Molitch. Philadelphia, Current Medicine, 2000. This patient with Turner syndrome has the characteristic webbed neck and low hairline. © Springer Science+Business Media Symptoms of cardiac anomalies depend on severity. Coarctation of the aorta can cause high blood pressure in the upper extremities, diminished femoral pulses, and low or absent blood pressure in the lower extremities. Gonadal dysgenesis results in Primary Ovarian Insufficiency in most patients, manifested by absent or incomplete pubertal development, lack of breast development, amenorrhea (most patients have primary amenorrhea, but some have menarche and then secondary amenorrhea due to gonadal dysgenesis with premature ovarian failure), and infertility. A small proportion of patients have normal puberty and reproductive function ( Other medical problems that are associated with Turner syndrome develop with aging and may not be evident without screening. 1.Pasquino AM, Passeri F, Pucarelli I, et al: Spontaneous pubertal development in Turner's syndrome. Italian Study Group for Turner's Syndrome.J Clin Endocrinol Metab82(6):1810-1813, 1997. doi: 10.1210/jcem.82.6.3970 2.Steiner M, Saenger P: Turner Syndrome: An Update.Adv Pediatr69(1):177-202, 2022. doi: 10.1016/j.yapd.2022.03.004 