ESPE Abstracts

Background: In Nigeria, where malaria is endemic, hypertension is common. We reported that exposure to maternal malaria resulted in smaller babies with lower BP at birth, but a greater change (Δ) in BP to 12 months of age.Objective and hypotheses: To now present BP measurements out to 3 years of age.Method: Height, weight, and blood pressure (BP) were measured on 164 babies (75 males and 89 females) at birth, 12, 24, and 36 mo...

Background: Klinefelter syndrome is the most common sex chromosome disorder (prevalence: 1/600 newborn males), characterized by at least one extra X chromosome. If the diagnosis is not made prenatally, the disorder can remain unknown until pubertal or adult age. Kabuki syndrome, instead, is a rare, dysmorphic syndrome (1:32 000 newborn) characterized by distinctive facial features, multiple anomalies, and mental retardation. About 50–80% of cases are due to de novo</e...

Background: The predictive value of a random cortisol measurement in the neonatal population with suspected adrenal insufficiency is unknown.Objective and hypotheses: i) determine the indications for measuring cortisol; ii) review subsequent management; and iii) establish predictors for adrenal insufficiency.Method: A laboratory database search identified cortisol results in babies <1 year from three neonatal units between Sept...

Background: Congenital adrenal hyperplasia (CAH) is characterised by elevated adrenal androgens which can lead to virilisation of affected females.Objective and hypotheses: To outline clinical opinion on two controversial aspects of CAH management (antenatal dexamethasone and genital surgery of affected females) which was hypothesised would differ between regional centres.Methods: A survey was conducted via the Aus...

Background: Hypocalcemia is a common metabolic disorder in the neonatal period and may involve life-threatening situations. The aim is to analyze the main causes of hypocalcemia and its management.Objective and hypotheses: The aim is to analyze the main causes of hypocalcemia and its management.Method: Retrospective descriptive study by reviewing reports of 75 patients diagnosed of neonatal hypocalcemia (total Ca <7.6 mg/dl and...

Background: Diagnosis of adrenal insufficiency in the neonatal period is most accurately diagnosed with a short Synacthen test. Some tertiary endocrinology centres advocate random serial cortisol measurements over a 3-h period; a normal cortisol reading during such a test would negate the need for a Synacthen test.Objective and hypotheses: Our aim is to assess whether serial cortisol level readings accurately identifies neonates with normal adrenal funct...

Background: Controversial findings about the metabolic profile in newborns depending on the length of gestation and size at birth have been reported.Objective and hypotheses: Insulinemia, adiponectin, and leptin levels are different in children born prematurely and SGA neonates compared to term normal newborns.Method: 196 healthy newborns were studied at the age 3-4 days. Birth weight (BW), birth length (BL), BMI, ponderal index (P...

Background: Prader–Willi syndrome (PWS) is a relatively common multisystem disorder with a prevalence estimated in several studies to be in a range of one in 10 000–30 000 individuals.Objective and hypotheses: For the first time to our knowledge, we describe the case of a couple of twin, naturally conceived, monochorionic diamniotic, both affected by PWS.Method: The gravida 3 para 1 mother was 43, and the father 40, at th...

Background: Adrenoleukodystrophy (ALD) is an X-linked disease characterized by impaired β-oxidation of very long-chain fatty acids (VLCFA) and in the most severe cases by inflammatory demyelination in the brain, adrenocortical insufficiency (AI), and death. Seven phenotypes were described, with a higher prevalence of the cerebral forms.Case report: We report two cases of ALD with different evolution, in February 2014. First case, an 11 years old boy...

Background: Trisomy 21 is associated with dysregulated pituitary thyroid axis with higher TSH and lower FT4 than controls. This may be due to genomic imbalance from trisomy of chromosome 21. Transient congenital hypothyroidism (CH) in newborns is recognised in association with maternal thyroperoxidase (TPO) antibody positivity. ‘Thyroid hormone resistance’ in infancy in CH is also been described.Objective and hypotheses: We report an...

Background: There are published recommendations for neonates to avoid exposure to iodine. Iodine is trapped by the thyroid gland from the blood stream and used for the synthesis of thyroid hormones. Any excess is excreted almost entirely in the urine. Acute kidney injury, especially anuria places infants at risk of toxicity when exposed to iodine and paradoxical hypothyroidism can occur (Wolff–Chaikoff effect). Hypothyroidism of sufficient severity to seriously put the br...