M Vuerich

Incidence at birth and natural history of cryptorchidism: A study of 10,730 consecutive male infants

Of the 10,730 neonates born in the period 1978–1997 and examined for cryptorchidism (C) at birth, 1387 were pre-term (gestational age <37 wk), and 9343 were full-term. At birth, a total of 737 neonates (6.9%) were cryptorchid, 487 had bilateral C and 250 unilateral C. The C rate of pre-terms was 10 times higher than that of the full-terms (30.1 and 3.4%, respectively). Comparing the two studied decades, a significant decrease of C rate was found in the second decade in full-term neonates. The rates of C at birth were significantly elevated for low birth weight, babies born from mothers with an age <20 or >35 yr, newborns from mothers with A Rh positive and B Rh positive blood group. Of the 737 cryptorchid newborns at birth, 613 (83%) were re-examined after 12 months from the expected date of delivery, and those born in the period 1988–1997 were also re-evaluated at 6 months of life. Late spontaneous descent occurred in 464 cases (75.7%), while 149 (24.3%) were still cryptorchid. The incidence of C at 12 months from the expected date of delivery, after survival curve calculation, in term and pre-term infants, was 1.53 and 7.31%, respectively, in the period 1978–1987, and 1.22 and 3.13% respectively, in the 2nd decade (1988–1997). In the groups also examined at 6 months of life, spontaneous descent occurred almost completely within the first 6 months of life in term infants, but not in pre-terms. No evidence of seasonal cyclicity was found. Medical and/or surgical treatment was generally started within 2–4 yr of age earlier in the second decade of the study. In conclusion, the main risk factor for C at birth and at 12 months of life seems to be preterm birth and low birth weight. If this is associated itself to a higher risk of infertility too, it remains to be defined.

Adrenarche ,pubertal development ,age at menarche and final height of full-term ,born small for gestational age (SGA) girls

Children born small for gestational age (SGA) may present advanced bone maturation in childhood and reduced final height. The objectives of the study were to evaluate adrenarche, pubertal development, age at menarche and final height in full-term born-SGA girls. Twenty-four girls (12 born-SGA and 12 matched controls) were evaluated at 6-7.5 years of age for clinical signs of puberty and dehydroepiandrosterone sulfate (DHEAS) levels, as a marker of adrenarche. Thirty-eight girls (19 born-SGA and 19 matched controls) were evaluated at 17.5-18.5 years of age to assess final height, sexual maturation and age at menarche. SGA girls had a mean final height (160.1 cm vs 165.8 cm, p < 0.01) and mean weight (52.1 kg vs 56.5 kg, p < 0.05) significantly lower than controls. Controls had a mean final height significantly higher than their mean target height. Sexual maturation was at stage 5 of Tanners staging in SGA girls and control subjects. SGA girls had a slightly anticipated puberty (9.9 vs 10.4 years for initial breast development) and a lower age at menarche (11.9 vs 12.3 years). At 6-7.5 years of age, SGA females and controls did not show any difference for clinical signs of puberty; however, DHEAS levels (0.75 + 0.18 microgram/ml vs 0.57 + 0.22 microgram/ml, p < 0.05) were significantly higher in SGA girls than in control subjects. We concluded that full-term born-SGA females have impaired final height and weight in adolescence but substantially normal sexual maturation and age at menarche. Increased DHEAS levels before puberty in born-SGA girls may predispose to increased bone maturation in childhood with a reduced final height. In our population a progressive increment in final stature is evident.

Symptomatic hypercalcemia in the first months of life: Calcium-regulating hormones and treatment

Neonatal hypercalcemia is a rare condition often of unclear pathogenesis. If unrecognized and untreated it may result in central nervous system and renal damage. We studied three infants with symptomatic neonatal hypercalcemia pointing out pathogenetic and therapeutic aspects. One infant was found to have transient hyper-parathyroidism with high intact parathyroid hormone (iPTH) levels. One infant had an incomplete form of Williams syndrome with hypercalcemia and an elfin facies. The pathogenesis is unclear in this case. A reduced secretion of calcitonin or an hy-persensitivity to vitamin D might be the underlying defect. The third case was found to have subcutaneous fat necrosis and hypercalcemia associated with high 1,25(OH)2D levels and suppressed iPTH levels. These findings suggest an unregulated extrarenal 1,25(OH)2D production. These infants were treated with hydratation, furosemide, corticosteroids and low calcium diet. Symptomatic neonatal hypercalcemia should be treated promptly. However blood has to be taken before starting treatment to study calcium-regulating hormones and clarify pathogenesis.

Low Birth Weight for Gestational Age Associates with Reduced Glucose Concentrations at Birth, Infancy and Childhood

Background/Aims: Our aim was to investigate glucose homeostasis, insulin sensitivity and insulin-like growth factor (IGF) system status in children born small for gestational age (SGA). Methods: A case-control study was carried out at birth, infancy and childhood, comparing SGA with children appropriate for gestational age strictly matched for age, gender, pubertal status and body mass index. Ninety newborns, 52 infants, and 68 children were studied. Fasting insulin (IF), fasting glucose (GF) to IF ratio (GF/IF), the homeostasis model assessment of insulin sensitivity, the quantitative insulin sensitivity check index, insulinogenic index and the triglyceride/high-density lipoprotein-cholesterol ratio were measured. IGF-I, IGF-binding protein-3 and the IGF-I/IGF-binding protein-3 molar ratio were assessed. Results: Glucose concentrations were lower in SGA newborns (p < 0.0001), infants (p = 0.01), and children (p = 0.001). Birth weight correlated with glucose levels at birth (r = 0.59, p < 0.0001), 12 months (r = 0.29, p = 0.04) and childhood (r = 0.44, p < 0.0001). Conclusion: Our results provide evidence for a developmental adaptation of glucose metabolism in SGA children leading to reduced glucose concentrations.

Neonatal outcome in newborns from mothers with endocrinopathies.

Introduction. Hypothyroidism and gestational diabetes are common endocrine disorders in pregnancy. Our aim is to evaluate the outcome of newborns from mothers with hypothyroidism and from mothers with gestational diabetes. Patients and methods. The study analysed 216 newborns: 112 from mothers with gestational diabetes and 104 from mothers with hypothyroidism. For each case, we included as a control a newborn of same sex and gestational age from a mother without diabetes or thyreopathy. Results. In newborns from mothers with gestational diabetes there was an increased frequency of hypoglycaemia and hypocalcaemia, of lower head circumference and of small-for-gestational age (SGA) birth or macrosomy (LGA) than controls. The newborns from mothers with hypothyroidism are more frequently SGA or LGA and they have a slightly increased risk of hypoglycaemia. Conclusions. Newborns from mothers with diabetes mellitus or hypothyroidism have an increased risk of being SGA or LGA, and to develop a mild transient hypoglycaemia. Newborns from mothers with diabetes mellitus have also an increased risk to develop hypocalcaemia and to have a lower head circumference than controls. Thus, to prevent SGA or LGA births, it is very important an early diagnosis and treatment, and a strict metabolic control of these conditions.

Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report

Genetic mutations associated with pulmonary surfactant protein deficiency are associated with diverse clinical phenotypes. Mutations of the surfactant protein B and C genes were the first to be described. In 2004, fatal surfactant deficiency in newborns due to mutations of the gene encoding the adenosine triphosphate-binding cassette transporter A3 (ABCA3) was first reported. Few cases of lethal adenosine triphosphate-binding cassette transporter A3 mutations have been described to date. In our report, we describe a full-term newborn that died because of respiratory failure secondary to an uncommon ABCA3 genetic configuration.

Simulation on neonatal stabilization and transport

Legal problems are more numbered even in Neonatology. Hospital policy should establish strategies to limit systematic, environmental and human errors, including solutions to optimize organization and increase knowledge [1].Staff retraining by means of simulation could be a precious instrument. Simulation works through mechanisms that are proper of our brain for decision-making (i.e. simulated mind) [2]. The capacity of evaluating a situation earlier than it happens and so planning possible actions is the so called anticipatory simulation [3]. Physiological basis of simulation effectiveness are deeply related to mirror neurons [4]. Simulation emphasizes the so called “deutero-learning”, i.e. the context in which (proto-)learning processes occur: at the same time people are learning simple concepts, and also learning something about the world and about how things occur [5]. In sum, simulation maximises learning through the extraction of implicit rules, and putting specific bits of basic experiences in context to generalise them. The aim of this lecture is to focus on methods of simulation on neonatal stabilization and transport (more than on medical procedures themselves). Simulation retraining for medical (or nurse) staff should be based on the andragogic approach: adults are conscious of their own educational needs and focus their own attention on specific interests (related to daily practice) [6]. This methodological approach needs that teachers behave as peers towards learners, with empathy and a collaborative attitude. A precious additive methodological element is fun: the serious medical game is the approach to optimize technical memories trough emotions [5]. In our experience, materials for simulation are daily clinical devices and innovative stuff developed by a multidisciplinary collaboration [7];we discuss published guidelines (e.g. STABLE Program) and participants’ experiences. As regards neonatal stabilization and transport, we perform: i) annual retraining sessions for all the operators in our Unit, ii) low and medium fidelity simulation sessions for nearby hospitals, iii) high fidelity sessions for colleagues working at geographically uncomfortable hospitals (i.e. island) and so needing for transport by helicopter, as a kind of “full scale CRM (Crisis Resources Management)”. In our opinion the traditional approach to teaching is inadequate for retraining of adult professionals. We propose simulation as the method to deepen knowledge, strengthen abilities and so optimize performances. Recording sessions and analysing them to discuss behaviours is a main instruments for debriefing. Every kind of support (e.g. e-learning platforms, papery stuff, pocket memory materials, etc) is admitted and should be creatively promoted.