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.