A RARE CASE REPORT OF THYROTOXICOSIS WITH OVERLAPPING DISORDER? NEUROFIBROMATOSIS-NOONAN SYNDROME

14 /Female presented with history of protrusion of eyeballs since last 2 months. She underwent Thyroid Function Test and Ultrasonography Neck in view of swelling on the anterior aspect of the neck. Thyroid prole concluded to be a case of primary Hyperthyroidism (elevated T3 and T4 with TSH<0.005 microIU/L and sonographic nding suggested homogeneous enlargement of thyroid with increased vascularity. Mother also showed concern regarding short stature and non-attainment of menarche. On examination patient had exophthalmos, joffroy's sign and stellwag sign, palmar freckling, webbing of neck, increased carrying angle and short stature. Patient also had tachycardia and hypertension. ultrasonography abdomen-pelvis suggested hypoplastic uterus and ovaries .X- Ray elbow was done to look for ossication and epiphyseal closure. Karyotyping for suspected Turner Syndrome came 46XX. Hormonal workup (Sr. LH, Sr FSH, Sr Cortisol, Sr Estradiol and Sr IGF-1) of which Serum IGF-1came signicantly low. Patient was then started on Tab Carbimazole and Tab Propranolol. Gynaecologist advised to induce menstruation through breakthrough bleeding post progesterone pills consumption. Further plan of action is to give Inj Somatotropin in view of short stature. Molecular genetic testing including Hybridization is also being taken under consideration This overlapping Syndromes are not very common to be seen in day-today practice and hence should be studied with interest so that early intervention, diagnosis and treatment can be given. Appropriate intervention like Growth Hormone Suppression Test, genomic sequencing and testing and treating Thyrotoxicosis should give a better outcome.