ESPE Abstracts

Presentation of case: A 3-year-old boy with central precocious puberty as a result of the organic lesion of brain (hamartoma of hypotalamus). Complains.Increased height velocity, masculinization, fast growth of external genitalia, frequent erections, acne, low voice. Medical history. The baby was born with weight 3400 g. The age of the mother at birth of the child was 23 years. The breast feeding 6 months. In the age of 24 months boy started to grow very fastly. In the age of 2.5 years was marked pubic hair, acnae, increased external genitalia, voice turned low, frequent erections. The growth velocity was 16 cm per year. On physical examination, height 1.12 m, weight 27 kg. Masculine habitus with elongated torso and O-shape distorted legs. A heart rate of 82 beats per minute, blood pressure - 90/60 mm Hg, and a respiratory rate of 22 breaths per minute. External genitalia development corresponds to the age of 14 yrs. Pubichair stage is P3 on the Tanner scale. Penis length was 6.5 cm, diameter 2.5 cm in calm state. Testiclar volume was 15 ml. Scrotum is plicate, pigmented. Boy had frequent spontaneous erections and aggressive behavior. Voice was low, rough. Delay in speech development. Biochemical evaluation revealed pubertal levels of testosterone - 5.4 nmol/L, LH - 1.6 U/l; FSH - 0.86 U/l. Normal levels of alpha-fetoprotein – 3.0 ng/ml (normal 0-13). A thyrotropin level of 1.8 mIU per liter (normal range, 0.4 to 4.2), a free thyroxine level of 1.7 ng per deciliter (normal range, 0.8 to 2.2 ng per deciliter); hydrocortisone – 280.5 nmol per liter. Bone age corresponds to the age 7 - 7.5 years. Ophtslmologist: fundus of the eyes without pathology, visual nerve disks pale-pink, borders are clear, vessels are not changed. Brain MRI revealed hamartoma of hypothalamus, hypotrophy of vermis and cyst of right temporal lobe. Neurosurgeon: numerous congenital anomalies of brain (retro-cerebellar cyst, cerebellum worm hypoplasia, hamartroma of hypotalamus, right temporal lobe cyst). Surgical treatment was not recommended. Therapy: Cyproterone acetate 50 mg daily. The examination after 1 month revealed the positive dynamics: erections disappeared, penis size decreased, appetite got lower, and the child calmer.

Conclusion: Central precocious puberty in this patient was a result of numerous congenital anomalies of brain: retro-cerebellar cyst, cerebellum worm hypoplasia, hamartroma of hypotalamus, right temporal lobe cyst.