Endocrine Abstracts

A 7 year old boy presented with complaint of scrotal heaviness and swelling more on the right side. He had history of early and disorganised tanner pubertal growth pattern: development of axillary hair>penile enlargement>pubic hair >right testicular enlargement. On examination, he was found to have elevated blood pressure and bilateral testicles were enlarged (right>left) and non-tender. Based on these clinical findings, diagnosis of precocious puberty was suspected. The patient was advised ultrasonography of scrotum and relevant testicular tumour markers like AFP, LDH, hCG levels. USG of scrotum revealed multiple well-defined smooth walled heterogeneously hypo-echoic lesions in bilateral testis, which show internal vascularity on colour doppler. Lesions being bilateral, possibility of systemic cause like infection, secondary due to adrenal gland hormonal secreting neoplasm or central cause like hormone secreting pituitary neoplasm could not be ruled out. To confirm the findings, MRI scrotum with abdominal and pituitary screening was carried out. MRI scrotum showed multiple well-defined conglomerated lesions appearing T1 hyper-intense T2 hypo intense and showing homogenous post-contrast enhancement replacing bilateral testis. MRI abdomen showed bulky bilateral adrenal glands with mildly lobulated margins and heterogenous signal intensity. Laboratory parameters were suggestive of hypokalaemia, hypocortisolism with elevated testosterone and ACTH levels. In this patient with history of precocious puberty with hypertension and hypokalaemia, Diagnosis was made of Congenital Adrenal Hyperplasia(CAH) with Testicular Adrenal Rest Tumours (TARTs) secondary to 11-beta hydroxylase deficiency. TARTs are an important complication of CAH, which probably develop from ectopic remnants of intra-testicular adrenal tissue stimulated by Adrenocorticotropic hormone (ACTH) hypersecretion. Treatment for TART includes suppressive medical therapy by glucocorticoids which suppresses ACTH. Our patient was started on hydrocortisone tablet and followed up after 6 months. There was reduction in the number and size of lesions in both testis on ultrasound with normalisation of blood pressure