ESPE Abstracts

Pituitary stalk interruption syndrome (PSIS) can be classified as a form of holoprosencephaly. The sonic hedgehog signaling (SHH) has a key role in central nervous system midline development. GLI2 is a transcription factor of SHH pathway. GLI2 pathogenetic variants show phenotypic variability and nonpenetrance. We present a female patient born at 37+1 weeks of gestation from moroccans non-consanguineous parents. Unicogenic. Polihydramnios, urogenital sinus, palatal and lip cle...

Septo-optic dysplasia (SOD) is characterized by optic nerve hypoplasia, hypothalamic-pituitary axis dysfunction and brain’s midline structures defects. His clinical features are heterogeneous. They consist mainly in visual impairments, endocrine dysfunction, cognitive and neurological abnormalities. We present a patient of 6 years old, affected by SOD, central diabetes insipidus, central hypothyroidism and growth hormone deficiency (GHD). She was born at 40+2 gestational...

Male, aged 6 years 3 months, recently moved from Peru, was admitted for suspected syndromic obesity. His medical history was unremarkable; no documented neonatal hypoglycemia or prolonged jaundice. Independent walking was achieved at 3 years and meaningful words at 2. Physical examination: height 99.2 cm (-3.57 SDS), -2.8 SDS below target height, BMI 27.43 kg/m2 (2.47 SDS); his weight has increased since the age of 4. Peculiar somatic characteristics were observed - saddle nos...

Female, 7-year-old, presented with a 6-months history of headaches and right ptosis, with a sudden worsening associated with projectile vomiting. Height 141 cm (2.67 SDS), weight 44.35 kg (1.98 SDS). She presented with enlarged hands and feet, diastema, broad nasal bridge, prominent nasal septum, low-set ears and coarse facial features. Brain MRI revealed a 22 × 25 × 40 mm pituitary mass with a suprasellar extension compressing the optic chiasm and invading the cav...