Hormonal therapy in a patient with a delayed diagnosis of Turner's syndrome.
BACKGROUND
A 15-year-old girl presented to our clinic with short stature and delayed puberty. On examination her height was 139.3 cm, which is 13.2 cm below the 3(rd) percentile on a standard growth chart, and she had no clinical signs of puberty. A number of typical features of Turner's syndrome were found, including a short webbed neck, cubitus valgus, shield chest, multiple pigmented nevi, lymphedema, epicanthus and micrognathia.


METHODS
Plasma follicle-stimulating hormone and luteinizing hormone levels were increased. A pelvic ultrasound demonstrated a small uterus, but the ovaries could not be visualized. The patient's bone age was 12-13 years. A horseshoe kidney was seen on renal ultrasound and an echocardiography revealed aortic coarctation. The 45,X karyotype confirmed the diagnosis.


METHODS
Turner's syndrome.


RESULTS
Growth hormone therapy (1 IU/kg/week; approximately 0.05 mg/kg/day) was started together with oxandrolone (0.05 mg/kg/day) and transdermal estrogen. The dose of estrogen was gradually increased from 12.5 microg/day to 25.0 microg/day and then to 50.0 microg/day over a period of 12 months. Growth hormone and oxandrolone were withdrawn after 1 year, when the patient's epiphyses had fused. Hormonal replacement therapy with estrogens was continued and the patient has reached stage 3 of pubertal development and a final height of 148.5 cm.
Gawlik
Aneta
A
Department of Pediatric Endocrinology and Diabetes of the Medical University of Silesia, Katowice, Poland.
Malecka-Tendera
Ewa
E
D000293:Adolescent; D001827:Body Height / Q000187:drug effects; D004967:Estrogens / Q000008:administration & dosage / Q000627:therapeutic use; D005260:Female; D019382:Human Growth Hormone / Q000008:administration & dosage / Q000627:therapeutic use*; D006801:Humans; D010074:Oxandrolone / Q000008:administration & dosage / Q000627:therapeutic use; D014424:Turner Syndrome / Q000175:diagnosis / Q000188:drug therapy*
D004967:Estrogens; D019382:Human Growth Hormone; D010074:Oxandrolone