Most common endocrine abnormality in Down's syndrome is-
Ans. is 'a' i.e., Hypothyroidism o Hypothyroidism is the most common endocrine abmnormality in downs syndromeClinical features of Downs svndromeo Most striking feature in the neonate is hypotonia and although the diagnosis is usually evident at this time, it may sometimes be missed if the baby is very premature or his facial features are concealed by ventilatory apparatus.Other clinical features include:-1) GeneralMental retardation, short stature2) Cranio-facial:- Brachycephaly, epicanthic fold, protrudingtongue, small ears, upward sloping palpebral ?fissures (Mongoloid slant), strabismus, nystagmus, Brushfied spots in iris.3) Limbs :- Fifth finger clinodactyly, single palmar crease (simian crease), wide gap between first and second toes (sandle gap ).4) Congenital heart disease - Common AV canal, ostium primum/endocardial cushion defect type ASD (most common), VSD, PDA, fallot tetralogy.5) GIT Anal atresia, Duodenal atresia, Hirschsprung disease, annular pancreas.6) Increased incidence of leukemia (1 %). Leukemias common are ALL (most common), AML (M7-AML) transient myeloproliferative disorders, and Juvenil CML.7) Others : Early onset of Alzheimer's disease, Decreased immunity with recurrent infections, obesity, DM, Hypothyroidism.
Hypothyroidism
Hypoparathyroidism
Congenital adrenal hyperplasia
Cushing's disease
Genetic Approach to Pediatric Medicine