hrp0089p3-p246 | Growth & Syndromes P3 | ESPE2018

Microduplication of 3p25.3 and 4p23 Regions in a Patient with Multiple Congenital Anomalies, Congenital Hypothyroidism and Adrenogenital Syndrome

Barreca Massimo , Scavone Maria , Giancotti Laura , Colao Emma , Miniero Roberto

We report the case of a seven-year-old boy, unicogenised child, born at 33w, PN 1,540 Kg, (APGAR 8-10), hospitalized in neonatology unit for 30 days, invasive respiratory assistance was not necessary. At birth evidence of hypospadias with penile incurvation, oval fossa pervia, corpus callosum agenesis. Normal male karyotype. For positivity to screening for IC (in-situ normal thyroid), started L-Thyroxine therapy. When he was six the phenotype showed broad forehead, down-slant...

hrp0089p2-p334 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Hypertension During GNRH Analogues Therapy in a 10-year-old Girl

Barreca Massimo , Carboni Elena , Scavone Maria , Giancotti Laura , Miniero Roberto

We report a case of a 10-year-old girl born at 41st week and spontaneous birth, in therapy with analogous GnRH for idiopathic central puberty. At 4 years bilateral thelarche, performed first and second level investigations and recives diagnosis of early idiopathic central puberty. Since then, therapy with triptorelin 3.75 mg i.m every 21 days was administrated. Regular checks, good compliance, and response to therapy. At 10 years old recurring episodes of headache and vertigo....