Introduction: urner's syndrome (TS) is a rare genetic disorder related to the total or partial absence of an X chromosome, affecting 1/2 500 newborns of female sex. It associates almost steadily a delay in stature and ovarian failure with infertility.The other anomalies are inconstant: morphological features of variable intensity, associated malformations and an increased risk of subsequent acquired diseases.The diagnosis of certainty is established after the completion of a blood karyotype.
Observation: We report the case of a newborn female, the first born of a non-consanguineous couple. Premature 35 SA, born vaginally with intra-uterine growth retardation. The diagnosis was evoked before the IUGR associated with an evocative physical aspect: a lymphoedema of the extremities, a brief and wide short neck, a low implantation of the hair and the ears. Cardiac Doppler ultrasound revealed severe hypoplasia of the aortic isthmus. The rest of the malformation report was without anomalies. The standard karyotype returned to a monosomy of the X chromosome (45 X0).
Comment: The signs of the turnerian phenotype are very variably present. Our patient has neonatal Bonnevie-Ullrich syndrome. The post-natal karyotype was able to confirm the diagnosis, which will allow regular follow-up and adequate multidisciplinary management, especially hormonal treatments for growth optimization and pubertal induction.
Conclusion: TS is a rare genetic disease. The antenatal diagnosis is feasible. Interest of genetic counseling. The care is multidisciplinary.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology