Precocious puberty: A blessing in disguise!
A 9.5-year-old boy presented with enlargement of penis and appearance of pubic hair for 1 year and breaking of voice for 6 months. There was no history suggestive of raised intracranial tension and no history of head trauma, radiation exposure, cranial surgery or seizure. He was the first born child of a non-consanguineous union and had a younger brother who was healthy. He had a normal perinatal and developmental history had no history of any central nervous system infection or androgen exposure and his family history was non-contributory.\nOn examination, his height was 124.4 cm (standard deviation score [SDS] – 1.7), weight was 24.8 kg (SDS – 1.3) and his target height was 156.4 cm (SDS – 2.9). Testes were 5 ml in volume each and were firm, symmetric and without any irregularity. SPL was 8 cm and pubic hair was tanner stage 4 []. Examination of other systems including a detailed examination of the nervous system (with fundoscopic examination) revealed no abnormality.\nBiochemical tests showed an elevated testosterone (637 ng/dl) with prepubertal basal luteinizing hormone (LH) (0.128 mIU/ml) and post decapeptyl LH levels (30 min = 0.325 mIU/ml and 60 min = 0.334 mIU/ml) and a bone age of 12 years. Serum β-hCG was elevated (22.47 mIU/ml; normal = non-detectable to 5.3 mIU/ml) while 17-hydroxyprogesterone was normal (1.96 ng/ml). Ultrasonography of the abdomen and testes and chest X-ray were normal. Gadolinium contrast enhanced magnetic resonance imaging (MRI) revealed an ill-defined, heterogenous patchy enhancing lesion in bilateral basal ganglia with minimal compression and contralateral diaplacement of the third ventricle [Figures and ]. Cerebrospinal fluid (CSF) β-hCG was elevated (47.9 miU/ml; normal = non-detectable to 5.3 mIU/ml) but α-fetoprotein was normal (0.02 IU/ml; normal = 0-5.5). The next investigative step entailed a biopsy of the lesion, which could not be done in our institution for logistic reasons.\nHe was diagnosed to have isosexual precocity due to germ cell tumor involving bilateral basal ganglia, which in all likelihood was a germinoma and was referred to a specialty oncology institute. He received conformal radiotherapy following which serum testosterone dropped down to 137 ng/dl and MRI showed a slight decrease in the size of the lesion [].\nThe germ cell tumor was most likely a germinoma considering the age group, location, absence of elevated CSF α-fetoprotein and response to radiotherapy.