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Congenital hypopituitarism. Report of 23 cases Hipopituitarismo congénito: Experiencia en 23 casos
(2008)
Background: Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency. It is less common than growth hormone deficiency, which has an incidence of 1:4.000 to 1:8.000 live newborns. Early diagnosis of ...
Hipopituitarismo congénito: Experiencia en 23 casos
(Sociedad Médica de Santiago, 2008)
Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism
(Wiley, 2018-07)
Background: Congenital Hypopituitarism is caused by genetic and environmental factors. Over 30 genes have been implicated in isolated and/or combined pituitary hormone deficiency. The etiology remains unknown for up to 80% ...
Clinical and Biochemical Features of Hypopituitarism Among Brazilian Children With Zika Virus–Induced Microcephaly
(American Medical Association, 2021)
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection
(Karger, 2017-10)
Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, ...
Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism
(ENDOCRINE SOC, 2011)
Backgound and Aims: Correct gene dosage of SOX3 is critical for the development of the hypothalamo-pituitary axis. Both overdosage of SOX3, as a result of gene duplication, and loss of function resulting from expansion of ...
Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge toDiagnose at an Early Stage
(Karger, 2015-09)
Background: Combined pituitary hormone deficiency (CPHD) presents a wide spectrum of pituitary gland disorders. The postnatal gonadotropic surge provides a useful period to explore the gonadotropic axis for assessing the ...
Hipopituitarismo congénito: Experiencia en 23 casos
(SOC MEDICA SANTIAGO, 2008-08)
Background: Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency. It is less common than growth hormone deficiency, which has an incidence of 1:4.000 to 1:8.000 live newborns. Early diagnosis of ...
Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders
(Endocrine Society, 2021-03)
Purpose: Congenital hypopituitarism (CH) can present in isolation or with other birth defects. Mutations in multiple genes can cause CH, and the use of a genetic screening panel could establish the prevalence of mutations ...