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Medicine, Germany

Ahmed S.F.,Section of Child Health | O'Toole S.,Section of Child Health
Current Opinion in Endocrinology, Diabetes and Obesity | Year: 2012

Purpose of Review: This review of disorders of sex development (DSDs) in boys and men will outline the conditions that may lead to this phenotype, present some guidance on how to evaluate and investigate affected cases and then review the medical and surgical management and subsequent outcome. Recent Findings: DSDs are a wide range of relatively rare conditions which need multidisciplinary input. The underlying cause is clearer in girls with DSDs, but the actual diagnosis remains unclear in the majority of boys with DSDs. Summary: There is a need to improve the diagnostic yield and develop standardized methods for assessing, describing and investigating DSDs as well as for reporting outcome. This will lead to improved clinical management and genetic counselling. © 2012 Wolters Kluwer Health | Lippincott Williams & Wilkins.

Lucas-Herald A.,Section of Child Health | Butler S.,Diagnostic Imaging Service | Mactier H.,Neonatal Unit | McDevitt H.,Neonatal Unit | And 2 more authors.
Pediatrics | Year: 2012

OBJECTIVES: This study aimed to identify the prevalence and characteristics of rib fractures in ex-preterm infants. METHODS: Infants born at <37 weeks' gestation and admitted before 2011 to 3 regional neonatal units were identified from admission registers. For 2 centers, these data were available from 2000 onward and, for another center, from 2005. Electronic records were searched to identify chest radiographs performed up to age 1 year. Chest radiograph reports were then reviewed for evidence of rib fractures, and the case notes of all affected individuals were scrutinized. RESULTS: Of the 3318 eligible preterm infants, 1446 had a total of 9386 chest radiographs. Of these infants, 26 (1.8%) were identified as having a total of 62 rib fractures. Their median (range) gestation at birth was 26 weeks (23-34). The median chronological age of these infants at the time of the radiograph was 14 weeks (5 weeks to 8 months). The median corrected gestational age at the time of the radiograph was 39 weeks (34 weeks to 4 months). Of the 62 fractures, 27 (36%) were sited posteriorly, and 15 (53%) of the infants with posterior rib fractures were diagnosed with osteopathy of prematurity. Classic risk including conjugated hyperbilirubinemia and diuretics, were present in 23 of 26 (88%) infants. A full skeletal survey was performed in 8 of 26 (31%). Investigations for nonaccidental injury occurred in 4 of 26 (15%) cases. CONCLUSIONS: Evidence of rib fractures is present in ∼2% of expreterm infants. The evaluation of these fractures in infancy requires a detailed neonatal history irrespective of the site of rib fracture. Copyright © 2012 by the American Academy of Pediatrics.

Hermanns P.,Johannes Gutenberg University Mainz | Shepherd S.,Section of Child Health | Mansor M.,Forth Valley Royal Hospital | Schulga J.,Forth Valley Royal Hospital | And 3 more authors.
Thyroid | Year: 2014

Background: Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described. Objective: We studied a girl with DS and CH who had a mutation in the promoter sequence of the PAX8 gene. Results: A female infant was found to have trisomy 21 and CH, with a venous thyrotropin (TSH) of >150â‰mU/L and a free thyroxine (fT4) of 15.1 pmol/L (day 12). Thyroid peroxidase antibodies and thyroglobulin antibodies were elevated. Scintigraphy showed normal uptake, but ultrasound identified a small gland with heterogenous echotexture and cystic changes. Sequence analysis of the PAX8 gene revealed a new heterozygous maternally inherited mutation (-3C>T) close to the transcription initiation site. Electromobility shift assay studies of the wild type and the mutant PAX8 sequence incubated with nuclear extracts from PCCL3 cells exhibited that the sequence at position-3 is not involved in specific protein binding. However, the mutant PAX8 promoter showed a significantly reduced transcriptional activation of a luciferase reporter gene in vitro tested in HEK, PCCL3, as well as in HeLa cells, indicating that this mutation is very likely to lead to reduced PAX8 expression. Conclusions: The persistent CH in this patient with DS is likely to be attributable to the diminished PAX8 expression due to a new heterozygous mutation in the PAX8 promoter sequence. Our case shows that true CH may occur in DS, as in the general population. Furthermore, it is possible that the trisomy 21 itself may have resulted in a more severe phenotypic expression of the PAX8 mutation in the child than the mother. © 2014, Mary Ann Liebert, Inc.

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