ESPE Abstracts

Background: Jansen de Vries Syndrome is a rare autosomal dominant neurodevelopmental condition characterized by delayed psychomotor development, dysmorphic features, behavioural problems and short stature. First described in 2017, the disorder is attributed to pathogenic variants in Exons 5 and 6 of the of the protein phosphatase magnesium-dependent 1D (PPM1D) gene. The syndrome has been identified in 26 countries worldwide so far and it could be associated with growth hormone deficiency. Short stature in children is one of the most common endocrine disorders, involving multiple etiologies and continuous genetic research.

Methods: We assess the clinical data and investigations of a romanian patient with Jansen de Vries Syndrome who presented in our hospital in March 2023.

Case description: We report the case of a 3-year-old boy who presented with lateral cryptorchidism on the left side, a hypotrophic scrotum and neurological features such as speech delay, positional plagiocephaly and flatfeet. Our patient had normal gonadotrophins, 17-OH progesterone, AMH and inhibin B levels. On the second evaluation, we noted an important growth deceleration from -1.9 standard deviations (SD) to -2.41 SD. A growth hormone (GH) stimulation testing was performed, with a peak GH level post-stimulation below 5 ng/mL. The genetic testing revealed Jansen de Vries Syndrome associated with GH deficiency. Thus, all the data suggested isolated GH deficiency and GH therapy could be initiated.

Conclusion: Jansen de Vries Syndrome is a rare neurodevelopmental disease that was recently discovered and which could be associated with short stature and GH deficiency. Moreover, when examining a patient with growth failure, dysmorphism and intellectual disability, genetic testing should be taken into consideration and a multidisciplinary approach is mandatory for optimizing the quality of life and improving patient outcomes.