ESPE Abstracts

Introduction: Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary gland manifesting with varying degree of anterior pituitary insufficiency. It is presented with isolated growth hormone deficiency or multiple anterior pituitary hormone deficiencies. It is characterized by the triad of thin or interrupted pituitary stalk, hypoplasia or aplasia of adenohypophysis and ectopic or absent neurohypophysis. It is manifested with hyp...

Introduction: Differential diagnosis of partial arginine vasopressin deficiency (P-AVPD) and primary polydipsia (PP) can be challenging. Arginine-stimulated copeptin concentrations have been used to differentiate between arginine vasopressin deficiency (AVPD) and PP, setting a copeptin value of 3.8pmol/L at 60 min as a cut-off point in adults.Objective: To evaluate the efficacy and safety of the arginine-stimulated test ...

Objective: Mixed gonadal dysgenesis (MGD) (45,X,46,XY mosaicism) is a rare chromosomal disorders of sexual development (DSD). In this article, single center data were evaluated.Material Method: From the files of ten patients followed up with the diagnosis of mixed gonadal dysgenesis, complaints and physical examination findings, laboratory tests, chromosome analysis, FISH results, ultrasound, laparoscopy, pathology repor...

Carney Complex (CNC) is a rare genetic disorder characterized by multiple endocrine and nonendocrine neoplastic manifestations across various organ systems, primarily driven by mutations in the PRKAR1A gene. The most common clinical effects are on the adrenocortical axis. This study seeks to dissect the clinical heterogeneity observed in CNC patients with PRKAR1A mutations, emphasizing the adrenocortical axis and its impacts on patient outcomes.C...

Introduction: Differential diagnosis of partial central diabetes insipidus (PCDI) and primary polydipsia (PP) is challenging. Copeptin, a stable biomarker derived from the vasopressin precursor peptide, increases in response to arginine infusion. This has been utilized to distinguish between central diabetes insipidus (CDI) and PP, with a cutoff of 3.8 pmol/L at 60' post-infusion in adults.Objective: Evaluate argini...

Introduction: 46,XX testis/ovotesticular (OT) disorders of sex development (DSD) are rare conditions where gonadal differentiation in 46,XX individuals leads towards testicular development. SRY-negative 46,XX OT-DSD is even rarer compared to other DSDs.Case Presentation: A male patient presented at the age of 3 due to micropenis. Physical examination revealed penile hypospadias and bifid scrotum; phallus length was 2.2 c...

Introduction: NS is a relative frequent cause of short stature (ST) in pediatrics and its diagnosis is based on a combination of typical facial features, ST, chest wall defects, cardiac defects, developmental delay, cryptorchidism, lymphatic dysplasia, and family history (“Van Der Burgt Criteria”, revised 2007). Around 50% of NS patients presents a pathogenic variant in the PTPN11 gene. The overlap with other conditions, phenotypic changes...

Introduction: Homozygous leptin (LEP) and leptin receptor (LEPR) mutations lead to childhood-onset obesity due to deficient leptin signaling. The specific aims of this work are to explore genotype/phenotype correlations in a national multicenter cohort of 18 subjects with leptin (LEP) and leptin receptor (LEPR) deficiency, report on the long-term clinical follow-up of these rare cases, and systematically review all patients with pathogenic <e...

Background: Children living with paediatric endocrine conditions in resource-poor countries experience inequitable rates of preventable mortality and morbidity. Reducing preventable mortality will help member states committed to delivering on the United Nations’ Sustainable Development Goals 3.2.1, 3.2.2 and 3.4. CLAN (Caring & Living As Neighbours) has been improving health outcomes for children living with CAH in resource poor countries since 2004,...

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...