Introduction: 49XXXXY syndrome is the rarest X chromosome aneuploidy with an approximate incidence of 1: 85 000100 000 male births. The classic triad of symptoms include mental retardation, hypogonadism and radioulnar synostosis along with congenital heart diseases; Patent Ductus Arteriosus being the commonest defect reported, Distinct facial features, skeletal defects, cerebral and renal defects. To the best of our knowledge this is the first reported case of 49XXXXY syndrome in Sri Lanka.
Case presentation: This, day 10 old neonate who was born in a tertiary care center was referred to the paediatric Endocrinology unit of Lady Ridgeway due to detection of ambiguous genitalia at birth. He was the first child born to non consanguineous healthy parents. His 31 years old mother had an uncomplicated antenatal period with normal ultra sound scans. He was born at term via normal vaginal delivery with a birth weight of 2.385 kg. The baby sucked well and did not observed any hypoglycaemia or alteration in basic biochemical investigations. On examination child had hypertelorism, upslanting palpebral fissures, flat occiput and mild webbing of neck. System examination was normal. Genitalia examination revealed bifid scrotum, perineal urethra, 2 cm phallus and bilateral testis in situ. The hormonal analysis including DHEAS, Testosterone and 17-OHP levels were normal except for an elevated level of FSH indicating gonadal dysgenesis. USS abdomen detected testis located at bilateral inguinal canal and no mullerian structures were visible. Echocardiography showed a small patent foramen ovale with otherwise normal heart. Chromosome analysis turned out to be 49XXXXY syndrome.
Conclusion: Knowing the associations of 49XXXXY syndrome, diagnosing this syndrome in this child with ambiguous genitalia is beneficial as a multidisciplinary approach can made for further management to ensure quality of life.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology