Results 121 to 130 of about 3,538 (167)
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Cholestatic jaundice and congenital hypopituitarism
Journal of Paediatrics and Child Health, 1995Objective: The prevalence of cholestatic jaundice as a presenting feature of congenital hypopituitarism is assessed. Methodology: A retrospective case record analysis of the presenting features in all patients diagnosed as having congenital hypopituitarism between 1973–93.
M Šilink, C T Cowell, Kim C Donaghue
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Diagnostic pitfalls in the assessment of congenital hypopituitarism
Journal of Endocrinological Investigation, 2014 The diagnosis of congenital hypopituitarism is difficult and often delayed because its symptoms are nonspecific.To describe the different clinical presentations of children with congenital hypopituitarism to reduce the time for diagnosis and to begin a precocious and appropriate treatment.We analyzed a cohort of five children with congenital ...
Paolo Cavarzere +2 more
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Clinics in Perinatology, 2018
Mutations of growth hormone genes and pituitary transcription factors account for a small proportion of cases of severe congenital hypopituitarism. Most cases show characteristic MRI findings of pituitary stalk interruption syndrome. Clinical suspicion should prompt assessment of cortisol, free T4, thyroid-stimulating hormone, and growth hormone levels
John S Parks
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Mutations of growth hormone genes and pituitary transcription factors account for a small proportion of cases of severe congenital hypopituitarism. Most cases show characteristic MRI findings of pituitary stalk interruption syndrome. Clinical suspicion should prompt assessment of cortisol, free T4, thyroid-stimulating hormone, and growth hormone levels
John S Parks
exaly +3 more sources
Congenital Hypopituitarism: Various Genes, Various Phenotypes [PDF]
Hormone and Metabolic Research, 2019 AbstractThe ontogenesis and development of the pituitary gland is a highly complex process that depends on a cascade of transcription factors and signaling molecules. Spontaneous mutations and transgenic murine models have demonstrated a role for many of these factors, including HESX1, PROP1, PIT1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, SHH, GLI2 ...
Maria Xatzipsalti +2 more
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Overview of Congenital Hypopituitarism for the Neonatologist
NeoReviews, 2022AbstractCongenital hypopituitarism is the deficiency in 1 or more hormones produced by the anterior pituitary or released by the posterior pituitary and has an estimated incidence of 1 in 4,000 to 10,000. Due to the critical role the pituitary plays in growth, metabolic, and reproductive processes, early diagnosis is essential to prevent devastating ...
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Liver Involvement in Congenital Hypopituitarism
The Indian Journal of Pediatrics, 2019Cholestatic jaundice in early infancy is a complex diagnostic challenge. Cholestasis caused by endocrine disease is rare and poorly recognized. The aim of this paper is to report patients with liver dysfunctions resulting from hypopituitarism.Six patients with liver dysfunction diagnosed as hypopituitarism were studied and followed up at Uludag ...
Tarim, ÖMER FARUK +4 more
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Survival With Hypopituitarism From Congenital Syphilis
Pediatrics, 2002Congenital 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 ...
Dawn Nolt, Rola Saad, Michael L Moritz
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Hypopituitarism Oddities: Congenital Causes
Hormone Research in Paediatrics, 2007<i>Background:</i> The last 15 years have witnessed an explosion in our knowledge of hypothalamo-pituitary development, acquired mainly from naturally-occurring and transgenic animal models. A complex genetic cascade dictates organ commitment, cell differentiation and cell proliferation within the anterior pituitary.
Daniel, Kelberman, Mehul T, Dattani
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Congenital hypopituitarism associated with hyperammonemia
The Indian Journal of Pediatrics, 2009Neonatal onset hypopituitarism is a life threatening but potentially treatable metabolic condition. However, in the majority of cases it can be fatal due to the metabolic disturbances. We report a newborn with profound symptomatic hypoglycemia and hyperammonemia who initially was thought to have an inborn error of metabolism (IEM).
Abhay, Bhoyar, Andrew, Short
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Congenital Hypopituitarism in Neonates
NeoReviews, 2018Patients with congenital hypopituitarism are born without normal production of 1 or more of the hormones normally produced in the pituitary gland. The clinical spectrum varies widely; although a number of genetic causes are known, most cases are thought to be idiopathic.
Christine E. Cherella, Laurie E. Cohen
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