In this study levels of serum angiotensin converting enzyme (SACE) were evaluated using colorimetric method in 24 children with congenital hypothyroidism, 28 children from an iodine deficient zone (14 euthyroid, 14 subclinically hypothyroid) and 21 normal children. In the children with congenital hypothyroidism SACE levels (28.15 +/- 6.67 nmol/ml/min) were significantly lower (p < 0.05) than SACE levels in normal children (33.87 +/- 7.00 nmol/ml/min) and in children from an iodine deficient zone (subclinical hypothyroid: 36.05 +/- 7.88 nmol/ml/min or euthyroid: 39.61 +/- 6.83 nmol/ml/min). No statistical difference in SACE levels was revealed in either normal subjects or children from an iodine deficient zone. SACE levels among all the groups were not shown to be different in relation to sex. Average TSH levels, as expected, were significantly higher (p < 0.05) in children with congenital hypothyroidism. The correlation between SACE and TSH levels did not demonstrate a statistical significance in any of the groups studied. In conclusion, our data demonstrated that levels of SACE were significantly reduced in children with congenital hypothyroidism.
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http://dx.doi.org/10.1055/s-2007-1001674 | DOI Listing |
Acta Paediatr
January 2025
European Reference Network for Rare Inherited and Congenital Anomalies (ERNICA), Rotterdam, The Netherlands.
Aim: This study aimed to develop a universally applicable core set of quality indicators for Hirschsprung's disease care through a consensus-driven process, to standardise and improve care quality across Europe.
Methods: A modified Delphi method was used to achieve consensus among healthcare professionals (HPs) and patient representatives (PRs) across Europe. Participants completed three rounds of anonymous surveys, rating quality indicators for Hirschsprung's disease care.
Res Dev Disabil
January 2025
School of Psychological Science, Oregon State University, 2950 SW Jefferson Way, Corvallis, OR 97331, USA. Electronic address:
Introduction: Moebius syndrome is a rare congenital disorder with frequent anecdotal reports of sleep disturbances not sufficiently categorized by prior literature. The present mixed-methods, two-phase study aimed to characterize the sleep health and symptoms of a cohort of adults and children (via parent proxies) with Moebius syndrome.
Methods: In Phase 1, participants were 46 adults with Moebius Syndrome (M=33.
J Pediatr (Rio J)
January 2025
University of Amsterdam, Emma Children's Hospital Amsterdam University Medical Centers, Department of Pediatric Endocrinology, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; European Reference Network on Rare Endocrine Conditions (Endo-ERN), Amsterdam, The Netherlands.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Surgery, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles, CA, USA.
Background: Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management.
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