Abstract 186: Bilateral gynaecomastia in a child with neurofibromatosis

Background: Neurofibromatosis is an autosomal dominant disorder with multisystem organ involvement which is manifested by various signs and symptoms and also which has propensity for tumour. Neurofibromatosis is Is diagnosed by clinical signs and family history which has multiple endocrine related abnormalities. There are few case reports around the world with unilateral and bilateral gynaecomastia mainly presenting during childhood, pathophysiology being pseudoangiomatous stromal hyperplasia(PASH) without endocrinopathy. Case Summary: 6 year old boy presented to endocrine OPD with the complaints of non-progressive bilateral breast enlargement noticed by the care givers two years back, along with cafe au lait spots which was increasing in number and pigmentation. Father also had neurofibromatosis type-1. On examination found to have bilaterally symmetrical palpable glandular tissue 5 cm beneath nipple areola complex, multiple café au lait spots >0.5 cm, >6 in number, axillary freckling, lisch nodules and bilateral gynaecomastia, no bony abnormalities, no pubarche, testicular volume of 2 ml bilaterally With normal stretched penile length for his age. On investigation, ultrasound shows bilateral glandular tissue, Normal haemogram ,liver function test, and kidney function test, T3- 105 ng/dl, T4- 10.6 mcg/dl, TSH-3.2, LH-0.2, FSH-0.3, testosterone-4.31 ng/dl,prolactin-5.20 ng/ml, estradiol-4 pg/ml, hCG-<1.20 miu/ml , AFP -<1 miu/ml,bone age by TW method was 5.5 years. Conclusion: neurofibromatosis type one with gynaecomastia is a rare complication and one has to remember that association with this disorder. It is usually not associated with any endocrinopathy. Surgical management of gynaecomastia in pre-pubertal stage is debatable.