ESPE Abstracts

Introduction: The MAMLD1 gene is expressed in fetal and adult testes. It contributes to the development and formation of the male external genitalia in late stages of fetal organogenesis (week 8-12) and to testosterone biosynthesis. The pathogenic genetic variants of this gene determine a significant reduction in plasma testosterone concentrations, although they are not undetectable. Its most common phenotypic manifestation is hypospadias, also described in patients with micro...

Introduction: Neonatal Diabetes Mellitus (NDM) is characterised by severe hyperglycaemia, usually diagnosed in the first 6 months of life. Genetic diagnosis helps distinguishing between its different causes and between transient (TNDM) and permanent (PNDM) forms, with repercussions on the therapeutic approach and follow-up.Aim: Clinical and molecular characterisation of a series of NMD cases under endocrinological follow...

Introduct&idot;on: Thyroid cancers are rare malignancies in childhood and their incidence is between 1.5-3% among all childhood cancers. Papillary thyroid cancer (PTC) constitutes more than 90% of childhood thyroid cancers. Risk factors for thyroid cancer include; There are iodine deficiency, radiation exposure, radiotherapy to the head and neck region, and genetic predisposition. We will present an 8-year-old case who presented with a complaint of neck swelli...

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy(APECED) is a rare autoimmune disease caused by a loss-of-function mutation in the autoimmune regulator gene(AIRE). AIRE gene mutation disrupts the negative selection of self-reactive T cells in the thymus, causing autoimmune reactions in endocrine and non-endocrine tissues. Impairment in T cell function is also associated with susceptibility to specific infections along with autoimmun...

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...

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 ...