Congenital hypopituitarism in children. Molecular-genetic characteristics

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Evaluation of an Infant with Cholestasis and Congenital Hypopituitarism

We are reporting an infant with persistent abnormal liver function, neonatal jaundice, and intermittent hypoglycemia. Evaluation confirmed congenital hypopituitarism, in the absence of congenital anomalies and midline defect. His jaundice and abnormal liver function improved after treatment with Levothyroxine and hydrocortisone.

متن کامل

molecular genetic tests for cms: congenital

like myasthenia gravis, congenital myasthenic syndrome (cms) produces weakness and fatigue caused by problems at the neuromuscular junction but while mg is autoimmune, cms is an inherited disease caused by defective genes. genes defective in cms are required for making the ach receptor or other components of the neuromuscular junction. cmss are inherited in an ar, or, less frequently, ad manner...

متن کامل

Molecular genetic defects in congenital hypothyroidism.

Recently molecular genetic defects in some cases of congenital hypothyroidism (CH) as well as of rare cases of central hypothyroidism have been identified. These studies have led to the description of so far unexplained forms of these disorders. In some patients with CH early diagnosis by newborn screening and early treatment was not able to lead to a normal mental development. This could subse...

متن کامل

Survival with hypopituitarism from congenital syphilis.

Congenital syphilis continues to occur despite the advances in testing of pregnant women in many countries and the availability of penicillin since 1943. This is a report of a child with multiple systemic manifestations of congenital syphilis. This is one of the few cases of survival with pituitary involvement from congenital syphilis and the first noted case in which diabetes insipidus develop...

متن کامل

Clinical and molecular characteristics of congenital glioblastoma.

Congenital glioblastoma (cGBM) is an uncommon tumor of infancy with a reported variable but often poor cure rate, even with intensive therapy. Five patients with cGBMs, arising de novo and not in familial tumor predisposition kindreds, were studied for histological and biological features, using Affymetrix microarray. Tumors were large, often associated with hemorrhage, extended into the thalam...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: HERALD of North-Western State Medical University named after I.I. Mechnikov

سال: 2018

ISSN: 2618-9704,2618-7116

DOI: 10.17816/mechnikov201810149-54