ESPE Abstracts

Background: Fanconi anemia (FA) is a rare, genetically and phenotypically heterogeneous, autosomal or x-linked recessive chromosome instability disorder characterized by multiple congenital anomalies, bone marrow failure, and increased susceptibility to specific malignancies. Other findings, including short stature, skin pigmentation, and endocrine abnormalities have been recognized, most notably GH deficiency (GHD), hypothyroidism, and hypogonadism.Case...

Background: IGSF1 deficiency has been recently found to be a novel cause of x-linked central hypothyroidism, macroorchidism and delayed puberty.Case presentation: We present a family, in which the proband was diagnosed with congenital central hypothyroidism by neonatal screening and treated accordingly. Further pituitary examination revealed an unmeasurable prolactin level, normal IGF1, normal cortisol and no abnormalities of the pituitary on MRI. The pa...

Background: Quality of life and long-term prognosis are frequently, often severely impaired in craniopharyngioma (CP) patients.Objective and hypotheses: Knowledge of risk factors for long-term outcome is important for optimisation of treatment.Method: Overall survival (OS) and progression-free survival (PFS), BMI, neuropsychological status (EORTCQLQ-C30, MFI-20), and psychosocial status were analysed in 261 patients with childhood-...

Background: The syndrome of inappropriate antidiuresis (SIAD) is one of the most common causes of hyponatremia: it’s a disorder of sodium and water balance, characterized by urinary dilution impairment and hypotonic hyponatremia, in the absence of renal disease or any non-osmotic stimulus, able to induce antidiuretic hormone (ADH) release. SIAD can be manifestation of a wide range of diseases, including cancer, head trauma, hydrocephalus and epilepsy. Usually transient an...

Background: Loss-of-function of immunoglobulin superfamily, member 1 (IGSF1) causes an x-linked syndrome of central hypothyroidism, macroorchidism, delayed pubertal testosterone rise, variable prolactin deficiency, and variable partial growth hormone deficiency in childhood. The clinical features and gene expression pattern suggest a pivotal role for IGSF1 in the pituitary, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.<p class=...

Background: In recent years, traumatic brain injury (TBI) has been identified as a significant cause of pituitary dysfunction in children. Paediatric prospective studies are rare especially for mild TBI.Objective and hypotheses: The aim of this present study was to evaluate the frequency of hypopituitarism after mild, moderate and severe TBI in hospitalized children, and determining factors of this deficiency.Method: A prospective ...

Background: Kallmann syndrome is the most common form of hypogonadotropic hypogonadism and is associated with genes such as KAL1, KAL2, CHD7, NELF, PROK2, and PROKR2. Genetic factors in hypopituitarism are involved with the gene mutation of PROP1, POU1F1, HESX1, LHX3, LHX4, and PTX2. We found a novel mutation of the AVP gene in a Kallmann syndrome patient with hypopituitarism.Case presentation: The pa...

Background: Paediatric patients with sellar masses such as craniopharyngioma (CP) or cyst of Rathke’s pouch (CRP) frequently suffer disease- and treatment-related sequelae.Objective and hypotheses: We analysed the impact and prognostic relevance of initial hydrocephalus (HY) and hypothalamic involvement (HI) on long-term survival and functional capacity (FC) in children with CP or CRP.Method: Using retrospective analysis of pa...

Background: Central diabetes insipidus may result from mutations in the preproAVP gene, most often heterozygous and occurring de novo or inherited in an autosomal dominant mode; in these cases, intracellular accumulation of the misfolded product of the mutated allele slowly destroys the AVP-producing neurons, so that the onset of symptoms may be delayed for up to 28 years by which time the posterior pituitary hyperintense signal is no longer visible on magnetic resonance imagi...

Background: Pituitary function in children with optic chiasm glioma may be impaired.Objective and hypotheses: We aim to describe the frequency of endocrine abnormalities at diagnosis of the tumor and over the follow-up period in a group of children with chiasmatic glioma and its relation with different variables.Method: Retrospective study using the records of patients under 14 years old followed for optic chiasm glioma. Sex, age a...

Background: Congenital panhypopituitarism is associated with a variety of gene mutations. Abnormalities in the Gli2 gene were only recently described to be associated with congenital panhypopituitarism (Franca et al. 2010). Gli2 is a gene that encodes a transcription factor downstream of the Sonic Hedgehog pathway – known to play an important role in morphogenesis during embryology.Objective and hypotheses: Although Gli2 mutations were described to ...

Background: The molecular genetics of isolated hypogonadotropic hypogonadism (IHH) has been a subject of interest and recent discoveries. Multiple genetic variants with x-linked and autosomal inheritance are involved in the regulation of the hypothalamic pituitary gonadal axis.Objective and hypotheses: We undertook an extensive genetic evaluation to elucidate a possible genetic aetiology in two brothers with clinical and biochemical evidence of IHH. We h...

Background: As a result of hypothalamic involvement and/or treatment-related hypothalamic damage, up to 75% of childhood craniopharyngioma patients develop hypothalamic obesity.outcome is important for optimization of treatment.Method: Eating behaviour was analysed in 101 survivors of childhood craniopharyngioma, recruited from 1980 to 2001 in the HIT-Endo multicentre study, and in 85 BMI-matched healthy controls using the Inventory for eating behavior a...

Background: Pituitary hormone deficiency combined type 3 (CPHD3; MIM# 221750) is an autosomal recessive combined pituitary hormone deficiency caused by mutations in LHX3, a LIM-homeodomain transcription factor gene which is necessary for the normal pituitary and motorneuron development.Aims: Clinical manifestations of CPHD3 are pituitary dwarfism and might be accompanied by rigid cervical spine leading to limited neck rotation or sensorineural deafness. ...