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    Endocrine Disorders

 

Transient neonatal diabetes

Transient neonatal diabetes mellitus is an insulin-requiring hyperglycemia within the first month of life. The disease can be transient and resolve within first few months of life, or can persist as a permanent form of diabetes. Many cases can also develop type II diabetes later in life.

A form of transient neonatal diabetes (TNDM3) is caused by mutations in the KCNJ11 gene.

Congenital nongoitrous hypothyroidism-4 (CHNG4)  ( MIM: 275100)

Congenital nongoitrous hypothyroidism-4 (CHNG4) is an autosomal recessive endocrine disorder caused by mutations in the TSHB gene ( MIM: 188540). The disorder may be asymptomatic or might manifest as frank hypothyroidism in a fraction of patients, leading to increased levels of plasma TSH and low levels of thyroid hormone.

Isolated growth hormone deficiency (IGHD) type IA ( MIM: 262400)

Isolated growth hormone deficiency (IGHD) type IA is an autosomal recessive growth disorder caused by mutations in the GH1 gene ( MIM: 139250), leading to absent GH with severe dwarfism; patients often develop anti-GH antibodies when given exogenous growth hormone.

Isolated growth hormone deficiency (IGHD) type IB ( MIM: 612781)

Isolated growth hormone deficiency (IGHD) type IB is an autosomal recessive growth disorder caused by mutations in the GHRHR gene ( MIM: 139191). Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy.