A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy

Keisuke Wada, Hironori Kobayashi, Aisa Moriyama, Yasuhiro Haneda, Yuichi Mushimoto, Yuki Hasegawa, Kazumichi Onigata, Koji Kumori, Noriyoshi Ishikawa, Riruke Maruyama, Tsuyoshi Sogo, Lynne Murphy, Takeshi Taketani

Research output: Contribution to journalArticle

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-T4) and GH, and liver histology showed normal interlobular bile ducts at 8 mo old. This is the first case report of proven histological improvement after hormone replacement therapy. This suggested that pituitary-mediated hormones, especially cortisol, might be involved in the development of the bile ducts.

Original languageEnglish
Pages (from-to)251-257
Number of pages7
JournalClinical Pediatric Endocrinology
Volume26
Issue number4
DOIs
Publication statusPublished - Jan 1 2017
Externally publishedYes

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Biliary Atresia
Cholestasis
Hormone Replacement Therapy
Bile Ducts
Hydrocortisone
Histology
Bilirubin
Liver
Neonatal Jaundice
Scrotum
Anterior Pituitary Gland
Cryptorchidism
Phototherapy
Pituitary Hormones
Cholangiography
Endocrinology
Pituitary Gland
Giant Cells
Jaundice
Thyroxine

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy. / Wada, Keisuke; Kobayashi, Hironori; Moriyama, Aisa; Haneda, Yasuhiro; Mushimoto, Yuichi; Hasegawa, Yuki; Onigata, Kazumichi; Kumori, Koji; Ishikawa, Noriyoshi; Maruyama, Riruke; Sogo, Tsuyoshi; Murphy, Lynne; Taketani, Takeshi.

In: Clinical Pediatric Endocrinology, Vol. 26, No. 4, 01.01.2017, p. 251-257.

Research output: Contribution to journalArticle

Wada, K, Kobayashi, H, Moriyama, A, Haneda, Y, Mushimoto, Y, Hasegawa, Y, Onigata, K, Kumori, K, Ishikawa, N, Maruyama, R, Sogo, T, Murphy, L & Taketani, T 2017, 'A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy', Clinical Pediatric Endocrinology, vol. 26, no. 4, pp. 251-257. https://doi.org/10.1297/cpe.26.251
Wada, Keisuke ; Kobayashi, Hironori ; Moriyama, Aisa ; Haneda, Yasuhiro ; Mushimoto, Yuichi ; Hasegawa, Yuki ; Onigata, Kazumichi ; Kumori, Koji ; Ishikawa, Noriyoshi ; Maruyama, Riruke ; Sogo, Tsuyoshi ; Murphy, Lynne ; Taketani, Takeshi. / A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy. In: Clinical Pediatric Endocrinology. 2017 ; Vol. 26, No. 4. pp. 251-257.
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