ESPE Abstracts

Background: Neonatal hypocalcemia is defined when the total calcium levels are under 8 mg/dl (Ionic Ca < 1.1 mmol/l) in the full-term newborn, and under 7 mg/dl (Ionic Ca < 1 mmol/l) in the preterm. The fetus entirely depends on the maternal contributions of 25-OH-vitamin D, whose levels are directly correlated with diet and solar exposure. The largest transfer in calcium and vitamin D occurs in the third trimester of gestation, so prematurity is an important risk fact...

Background: Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a form of congenital adrenal hyperplasia (CAH) and results in steroid-production loss from cytochrome P450 proteins. Mutations in POR cause mild to severe forms of CAH with/without bone malformation symptoms resembling Antley-Bixler syndrome. We report a novel POR Arg550Trp mutation identified in a 46,XX patient with signs of aromatase (ARO) deficiency. Child (first pregnancy) and mother pr...

Background: The inheritable component of familial Papillary Thyroid Cancer (fPTC) was recently attributed to monogenic defects in a reduced number of genes including DICER1. DICER1 codes for a ribonuclease of the RNaseIII family essential for the biogenesis of microRNAs.Objective and hypotheses: We aimed to identify germline and/or somatic mutations in DICER1 in a familial pedigree with PTC, multinodular goiter (MNG) and other ...

Introduction: Obesity is associated with comorbidities such as hypertension (HTN), and other alterations in blood pressure (BP) such as: masked hypertension and alterations in the circadian cycle variability, that only can be detect through ambulatory blood pressure monitoring (ABPM).A higher prevalence of masked hypertension has been reported in obese subjects, up to 4.3%. Also a loss in drop from mean daytime to mean night-time lev...

Background: The MAMLD1 gene (Xp28) is thought to cause disorder of sex development (DSD) in 46, XY patients, mostly presenting with hypospadias, and, recently, also gonadal dysgenesis. However, there is some controversy about the role of MAMLD1 in sex development because i) some MAMLD1 variants are also detected in normal individuals, ii) others are not present in all affected DSD individuals of the same family; iii) several MAMLD1 mutations...

Preterm and low birth weight(LBW) newborns are at risk of thyroid dysfunction during a critical period for neurodevelpment and this dysfunction can be missed in congenital hypothyroidism screening program(CHSP). Consequently, reassessment of thyroid function has been promoted in neonatal units, added to CHSP.Objectives: To evaluate prevalence and risk factors of thyroid dysfunction in≤32weeksGA and/or 1500g newborn, and compare differ...

Introduction: Pituitary gigantism is caused by a somatotroph pituitary tumor that occurs before epiphyseal closure and is associated with increased morbidity due to the systemic effects of chronic hormonal excess. It is an extremely rare disease, with an estimated incidence of 8 per million person-years. Therapeutic modalities for pituitary gigantism are the same as those for acromegaly and include surgery, medication and radiation. Medical treatment plays an ...

Background: Classically adrenal insufficiency presents with hyponatraemia and hyperkalaemia, however the differential may be of alternative origin. Atopic dermatitis is a common inflammatory skin disease of infancy and childhood. In severe cases, the exudation from wet lesions can produce serious complications such as infection+very rarely electrolytes abnormalities as seen in this case.Case report: A 6-month-old female infant was referred for endocrine ...

Background: Neonatal diabetes mellitus (NDM) presents within 6months of life, is either permanent (PDM) or transient (TND). The incidence is 400 000/live births. Monogenic accounts for the majority of cases. We describe the case of what appears to be a familiar NDM with no current known cause.Case report: EM presented at 3 weeks old. She was born at term, IUGR (2.3 kg) with one day history of diarrhoea, vomiting and anorexia. There was no history of poly...

(DPG)-plus syndrome is a rare craniofacial anomaly. It usually occurs in combination with other craniofacial defects. The etiology of this condition remains unknown. Survivors to late childhood have either preserved pituitary function or central precious puberty. Idiopathic infantile hypercalcemia (IHH) is another rare condition that predominantly affects infants. The co-occurrence of (DPG)-plus syndrome and IIH has not been reported previously. We will also present a case rep...