[Difficult diagnosis in a 17-year-old patient: Type 1 diabetes? Type 2 diabetes? Or "double diabetes"?]. / Erschwerte Differenzialdiagnose bei einem 17-jährigen Patienten. Typ-1-Diabetes? Typ-2-Diabetes? Oder "Doppel-Diabetes"?

UNLABELLED: MEDICAL HISTORY AND CLINICAL FINDINGS: We report on a 17-year-old boy with elevated blood glucose levels, elevated liver enzymes and obesity (BMI 32.3 kg/m2). Clinical examination showed acanthosis nigricans and a vitiligo. The rest of the physical examination was without pathological findings. INVESTIGATIONS: The HbA1c value was 8.6 % (71 mmol/mol), and postprandial C-peptide showed a maximum level of 1.3 nmol/l. The type 1 diabetes-associated autoantibodies against protein tyrosine phosphatase IA-2 and zinc-transporter-8 were positive, while autoantibodies to glutamic acid decarboxylase and insulin were negative. There was no ketonuria. Ultrasound showed steatohepatitis. TREATMENT AND COURSE: Under therapy with metformin up to 2×1 g, blood glucose levels and liver enzymes normalized after a few weeks. After two months, the HbA1c value was 6.0 % (42.1 mmol/mol), and a weight loss of 5 kg was recorded. CONCLUSION: In obese adolescent patients with diabetes, a clear classification right from the beginning is not always possible. Characteristic findings of type 1 and type 2 diabetes may be present simultaneously. In the presented patient, monotherapy with metformin was sufficient in the first year. Close monitoring is essential to detect the transition to insulin dependence in time.

Ultrasound for the assessment of bone quality in preterm and term infants.

OBJECTIVE: As 80% of intrauterine bone mineralization takes place during the last trimester of pregnancy, preterm infants should be supplemented postnatally with optimal doses of calcium, phosphate and vitamin D. Calcium and phosphate excretion in the urine may be used to monitor individual mineral requirements, but are sometimes difficult to interpret. The objective of this study was to assess the value of quantitative ultrasound (QUS) for the analysis of bone status in neonates. STUDY DESIGN: All admissions to three independent tertiary neonatal intensive care units were studied. In 172 preterm and term infants with a gestational age between 23 and 42 weeks (mean 33.8±5.0) and a birth weight from 405 to 5130 g (mean 2132±1091 g) bone status was evaluated prospectively by quantitative ultrasound velocity using a standardized protocol. Infants were followed in regular intervals up to their first discharge home. While measurements were conducted in weekly intervals initially (n=55), 2-week intervals were regarded as sufficient thereafter due to limited changes in QUS values within the shorter period. Infants with a birth weight below 1500 g were followed during outpatient visits until up to 17 months of age. RESULT: The intra-individual day-to-day reproducibility was 0.62%. QUS-values from the first week of life correlated significantly with gestational age and birth weight (r=0.5 and r=0.6; P<0.001). Small-for-gestational-age infants showed lower values for QUS than appropriate-for-gestational-age infants allowing for their gestational age. Follow-up measurements correlated positively with age and weight during the week of measurement (r=0.2 and r=0.4; P=0.001). Comparing bone quality at 40 weeks of age in infants born at term versus infants born at 24 to 28 weeks, preterm infants showed significantly lower QUS than term infants (P<.0001).There was a significant correlation of QUS with serum alkaline phosphatase (P=0.003), the supplementation with calcium, phosphate and vitamin D (P< 0.001 each), as well as risk factors for a reduced bone mineralization. No correlation was found between QUS and calcium or phosphate concentration in serum or urine. CONCLUSION: QUS is a highly reproducible, easily applicable and radiation-free technique that can be used to monitor bone quality in individual newborns. Further prospective randomized-trials are necessary to evaluate, if therapeutic interventions based on QUS are able to prevent osteopenia of prematurity.

Pancreatic agenesis as cause for neonatal diabetes mellitus.

BACKGROUND: Pancreatic agenesis is a rare cause of neonatal diabetes mellitus and the knowledge about the clinical features is sparse. A patient with pancreatic agenesis and double outlet right ventricle is reported. This association has not previously been reported. In addition a synopsis of the patients (n = 14) with pancreatic agenesis who have hitherto been described is given. METHOD: We studied one patient and obtained information on 13 additional patients with pancreatic agenesis by reviewing literature. LITERATURE REVIEW: In one patient the pregnancy was terminated at 19 weeks. 31 % (4/13) of the infants died in the first week and 69 % (9/13) in the first six weeks of live, 17 % (2/12) were born preterm and 83 % (10/12) at term, 93 % (13/14) had severe intrauterine growth restriction, onset of diabetes was in 6 out of 10 infants during the first two days of live, ketonuria is rare and has been reported only once. 64 % (9/14) of the infants with pancreatic agenesis had additional malformations mainly of the biliary system (50 %) and/or the heart (36 %). 31 % (4/13) of the infants survived the neonatal period and developed normally. Failure to thrive was compensated by catch-up growth after replacement of pancreatic enzymes and surgical correction of the cardiac malformation. CONCLUSIONS: Pancreatic agenesis is a clinical entity characterized by severe intrauterine growth retardation, early onset of permanent neonatal diabetes mellitus without ketoacidosis, failure to thrive due to pancreatic exocrine dysfunction and associated malformations mainly of the biliary system or of the heart. Because of the high neonatal mortality, awareness of pancreatic agenesis as a possible cause of severe intrauterine growth restriction is important for the optimal treatment of diabetes mellitus, exocrine pancreatic insufficiency and the associated malformations.