ArticleClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2017
A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy.
Article in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 12 citations in OpenAlex.
- [Culler-Jones syndrome polymorphism].Problemy endokrinologii · 2025Article
- Case Report: A case of Culler-Jones syndrome caused byFrontiers in pediatrics · 2025Article
- Application of narrative nursing in the families of children with biliary atresia: A retrospective study.World journal of clinical cases · 2021Article
- Growth hormone deficiency and replacement in children.Reviews in endocrine & metabolic disorders · 2021Review
- Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms.World journal of gastroenterology · 2020Review
- Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in theJournal of clinical research in pediatric endocrinology · 2020Article
- Hypothalamus-Pituitary-Adrenal Dysfunction in Cholestatic Liver Disease.Frontiers in endocrinology · 2018Review
- Cortisol deficiency as a rare cause of neonatal cholestasis.Developmental period medicineReview
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Authors and funding
13 authors at 3 institutions in 1 country.
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Abstract
Congenital combined pituitary hormone deficiency (CPHD) may present with cholestasis in the neonate or during early infancy. However, its precise mechanism is unknown. A 3-mo-old boy presented with cryptorchidism and hypoplastic scrotum after birth. Neonatal jaundice was noted but temporarily improved with phototherapy. Jaundice recurred at 2 mo of age. Elevated direct bilirubin (D-Bil) and liver dysfunction were found but cholangiography showed no signs of biliary atresia (BA). Liver biopsy findings showed giant cell formation of hepatocytes with hypoplastic bile ducts. Subsequent magnetic resonance imaging (MRI) of the head revealed a hypoplastic pituitary gland with an ectopic posterior lobe, and the patient was diagnosed with congenital CPHD based on decreased secretion of cortisol and GH by the pituitary anterior lobe load test. D-Bil levels promptly improved after hydrocortisone (HDC) replacement. We subsequently began replacement with levothyroxine (L-T
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