ESPE Abstracts

Introduction: In human, the development of the embryonic gonads represents a complex process involving a large number of genes, some still unknown. Specific pathways have a crucial role for the normal ovarian development, the germ cell genomic stability and hormonal maintenance. These pathways’ dysregulation can lead to POF, clinically manifesting as the absence of pubertal onset and/or amenorrhea.Objective: To identify candidate genes responsible f...

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...

A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase a...

Introduction: Among girls assessed for pubertal precocity, pelvic ultrasound (pUS) may represent a pivotal tool to predict the time expected to elapse between sonographic assessment and the onset of menarche (TUS-M). Accordingly, the present analysis is meant to define the statistical relationship between sonographic parameters and TUS-M, in order to identify the most reliable predictor of the timing of menarche.<st...