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Respiratory insufficiency as a rare presentation in a child with vitamin D-dependent rickets type 1.
BMJ Case Rep
January 2025
Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India.
Rickets in children usually present with skeletal manifestations. However, they can also rarely present with extraskeletal manifestations, one of them being respiratory insufficiency. We present an unusual case of a girl in early childhood with respiratory insufficiency, which turned out to be due to the underlying vitamin D-dependent rickets (VDDR).
View Article and Find Full Text PDFRare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.
J Clin Res Pediatr Endocrinol
January 2025
University of Health Sciences Turkey, Dr. Sami Ulus Child Health and Diseases Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17-hydroxylase deficiency and lipoid CAH (LCAH) may also be encountered in clinical practice. 11β-OHD is the most common type of CAH after 21-OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21-OHD, findings of mineralocorticoid deficiency are not observed.
View Article and Find Full Text PDFInvestigating the molecular mechanisms of oocyte maturation and ovulation in Nile tilapia: A focus on the steroidogenic enzyme Cyp17a2.
Zool Res
November 2024
Fisheries Engineering Institute, Chinese Academy of Fishery Sciences, Beijing 100141, China. E-mail:
Previous research has highlighted the significant role of progestins and glucocorticoids in fish oocyte maturation and ovulation. To clarify the molecular mechanisms underlying these processes, comprehensive investigations were conducted using a mutant Nile tilapia ( ) model. Analysis revealed pronounced Cyp17a2 expression in ovarian somatic cells of the tilapia.
View Article and Find Full Text PDFBranched-chain amino acids promote hepatic Cyp7a1 expression and bile acid synthesis via suppressing FGF21-ERK pathway.
Acta Pharmacol Sin
November 2024
NHC Key Laboratory of Hormones and Development, Tianjin Key Laboratory of Metabolic Diseases, Chu Hsien-I Memorial Hospital & Tianjin Institute of Endocrinology, Tianjin Medical University, Tianjin, 300134, China.
Branched-chain amino acids (BCAAs) including leucine, isoleucine and valine have been linked with metabolic and cardiovascular diseases. BCAAs homeostasis is tightly controlled by their catabolic pathway. BCKA dehydrogenase (BCKD) complex is the rate-limiting step for BCAA catabolism.
View Article and Find Full Text PDFClinical and Hormonal Profile of Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia: Experience from a Tertiary Centre In India.
Indian J Endocrinol Metab
June 2023
Department of Endocrinology, M S Ramaiah Medical College, Bengaluru, Karnataka, India.
Introduction: Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder requiring treatment with steroids. Both over and under-treatment can have an impact on growth outcomes.
Aims: The aim of this study was to study the clinical and hormonal profile of a cohort of individuals with classical 21-hydroxylase CAH and to assess the factors influencing growth outcomes in these individuals.
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