49,XXXXY syndrome is a rare defect of sex chromosomes frequently labelled as Klinefelter variant. It is associated with more severe dysmorphic features, hypogenitalism and mental retardation.
The goal: To describe clinical, biochemical, hormonal, radiological and developmental status of the patient with 49,XXXXY karyotype.
Report of the patient: 12-month-old boy referred because of underdeveloped genitalia. The patient was born by caesarean section because of placenta praevia, had hypotrophy and respiratory distress, weight 2400 g, length 53 cm, Apgar score 6. Scoliosis was noticed at the age of 6 months. At 10 months a CT scan confirmed mild hydrocephalus with cerebral atrophy.
At the age of 12 months his weight was 9600, length 80 cm. Physical examination revealed: hypotonia, broad forehead and nasal bridge, hypertelorism, epicanthic folds, rotated left ear, lack of teeth, short neck, sloping shoulders, narrow thorax, left side scoliosis, hypoplastic scrotum, small penis and testes, left testis located in inguinal canal, right in scrotum. Psychomotorical development was retarded: he could not seat or stand without support. A chromosome study indicated the 49,XXXXY karyotype.
On radiographic examination: Delayed bone age adequate to neonatal period, left side scoliosis in the thoracal-lumbal region of the vertebrae. TSH 1.31 μIU/ml, FT4 1.2 ng/dl, FT3 5.5 pg/ml. During TRH stimulatory test TSH level increased to 35.2 μIU/ml, which indicated hypothyroidism. After GnRHa: FSH rose from 0.53 to 41.7 mIU/ml, LH from 4.5 to 29.2 mIU/ml. Stimulation with CRH caused the change of ACTH from <10 to 34.5 pg/ml. Echocardiography confirmed PFO, urography was normal. L-thyroxin administration was ordered. After 1 month the first tooth appeared. He started walking at 23 months, but still doesnt talk.
Conclusion: Children with 49,XXXXY karyotype require hormonal estimations. Early identification of deficit allows starting early treatment intervention, parallel to rehabilitation, to support individual development.