OBJECTIVES Physical lesions in the region of the suprachiasmatic nuclei, which are the site of a circadian clock, result in abnormal circadian rhythmicity in animals, yet the extent of biological rhythm problems in individuals with anatomic or functional lesions in the hypothalamic-pituitary region are largely unknown. To address this issue, we examined patterns of rest and activity of children...

BACKGROUND Congenital hypopituitarism is an uncommon cause of neonatal cholestasis. Little is known about the effect of anterior pituitary hormone on hepatic functions. METHODS A retrospective review of the medical charts of eight infants with congenital hypopituitarism and neonatal cholestasis was performed. The results of endocrinological investigations, eye examinations, and magnetic reson...

SUMMARY Combined pituitary hormonal deficiency (CPHD) is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells. PROP1 gene mutations are one of the etiological diagnoses of congenital panhypopituitarism, however symptoms vary depending on phenotypic expression. We present a case of psychosis in a 36-year-old fem...

BACKGROUND Pulmonary arterial hypertension (PAH), which is caused by increased pulmonary artery pressure, results in right-heart failure and presents with shortness of breath, chest pain, syncope. PAH has idiopathic, heritable, drug/toxin causes accompanied other conditions, including connective tissue disease, congenital heart portal hypertension. Rarely, a type called portopulmonary (POPH). P...

we report a case of choroidal neovascularization (cnv) secondary to methylenetetrahydrofolate reductase (mthfr) gene mutation in a 20-year-old male patient with hypopituitarism. treatment with three consecutive injections of intravitreal ranibizumab (anti-vascular endothelial growth factor) resulted in significant improvement of the patient’s vision and the appearance of the macula. a search ...

OBJECTIVE The prevalence and clinical characteristics of IgG4-related hypophysitis remain unclear due to the limited number of case reports. Therefore, in this study, we screened consecutive outpatients with hypopituitarism and/or diabetes insipidus (DI) to estimate its prevalence. METHODS A total of 170 consecutive outpatients with hypopituitarism and/or central DI were screened at Kobe Univ...

A six-week-old male infant was admitted for investigation of cholestasis and pale stools. He became lethargic and apnoeic with prolonged seizures after a percutaneous liver biopsy. Subsequent investigations showed conjugated hyperbilirubinaemia, elevated liver enzymes, and hypoglycaemia. The radinuclide hepatobiliary scintigraphy was non-excretory. After an operative cholangiogram, the infant d...

BACKGROUND The prevalence of congenital hypopituitarism (CH) attributable to known transcription factor mutations appears to be rare and other causative genes for CH remain to be identified. Due to the sporadic occurrence of CH, de novo chromosomal rearrangements could be one of the molecular mechanisms participating in its etiology, especially in syndromic cases. OBJECTIVE To identify the ro...