Abstract
A male neonate was born at 41 weeks of gestation with a birth weight of 3320 g. Artificial respiratory management was required due to respiratory disturbance 1 h after birth, and subsequently catecholamine-refractory low cardiac output-induced shock occurred. Severe combined pituitary hormone deficiency (CPHD) was considered based on the presence of his respiratory disturbance, hypoglycemia and micropenis. After hydrocortisone (HDC) administration, circulatory dynamics rapidly improved. Brain magnetic resonance imaging (MRI) showed aplasia of the anterior pituitary gland and ectopic posterior gland. γ-Glutamyltranspeptidase (γ-GTP) increased from day 10 after birth and direct bilirubin increased from day 18. On ultrasonography, sludge filling the common bile duct and gall bladder was observed. After initiating treatment with both ursodeoxycholic acid and recombinant human growth hormone (rhGH), cholestasis improved and the sludge disappeared at 3 months after birth. In newborns with CPHD, severe central adrenal insufficiency might induce cardiogenic shock after birth. Early diagnosis and intervention are necessary.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Sobrier ML, Maghnie M, Vié-Luton MP, Secco A, di Iorgi N, et al. Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities. J Clin Endocrinol Metab 2006;91:4528–36.10.1210/jc.2006-0426Suche in Google Scholar PubMed
2. Tajima T, Ishizu K, Nakamura A. Molecular and clinical findings in patients with LHX4 and OTX2 mutations. Clin Pediatr Endocrinol 2013;22:15–23.10.1297/cpe.22.15Suche in Google Scholar PubMed
3. Choo-Kang LR, Sun CC, Counts DR. Cholestasis and hypoglycemia: manifestations of congenital anterior hypopituitarism. J Clin Endocrinol Metab 1996;81:2786–9.10.1210/jcem.81.8.8768830Suche in Google Scholar PubMed
4. Braslavsky D, Keselman A, Galoppo M, Lezama C, Chiesa A, et al. Neonatal cholestasis in congenital pituitary hormone deficiency and isolated hypocortisolism: characterization of liver dysfunction and follow-up. Arq Bras Endocrinol Metabol 2011;55:622–7.10.1590/S0004-27302011000800017Suche in Google Scholar PubMed
5. Sheehan AG, Martin SR, Stephure D, Scott RB. Neonatal cholestasis, hypoglycemia, and congenital hypopituitarism. J Pediatr Gastroenterol Nutr 1992;14:426–30.10.1097/00005176-199205000-00009Suche in Google Scholar PubMed
6. Filges I, Bischof-Renner A, Röthlisberger B, Potthoff C, Glanzmann R, et al. Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4. Pediatrics 2012;129:e529–34.10.1542/peds.2010-3849Suche in Google Scholar PubMed
7. Lombardi G, Di Somma C, Grasso LF, Savanelli MC, Colao A, et al. The cardiovascular system in growth hormone excess and growth hormone deficiency. J Endocrinol Invest 2012;35:1021–9.Suche in Google Scholar PubMed
8. Oki K, Matsuura W, Koide J, Saito Y, Ono Y, et al. Ampulla cardiomyopathy associated with adrenal insufficiency and hypothyroidism. Int J Cardiol 2006;108:391–2.10.1016/j.ijcard.2005.03.015Suche in Google Scholar PubMed
9. Wesdorp I, Bosman D, de Graaff A, Aronson D, van der Blij F, et al. Clinical presentations and predisposing factors of cholelithiasis and sludge in children. J Pediatr Gastroenterol Nutr 2000;31:411–7.10.1097/00005176-200010000-00015Suche in Google Scholar PubMed
10. Kurtoğlu S, Coban D, Akın MA, Akın L, Yıkılmaz A. Neonatal sludge: A finding of congenital hypothyroidism. J Clin Res Pediatr Endocrinol 2009;1:197–200.10.4274/jcrpe.v1i4.54Suche in Google Scholar PubMed PubMed Central
©2017 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Mini Review
- Marine-Lenhart syndrome in two adolescents, including one with thyroid cancer: a case series and review of the literature
- Original Articles
- The role of enterovirus infections in type 1 diabetes in Tunisia
- Serum progranulin levels in relation to insulin resistance in childhood obesity
- Relation between circulating oxidized-LDL and metabolic syndrome in children with obesity: the role of hypertriglyceridemic waist phenotype
- Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand
- Thyroid evaluation of children and adolescents with Williams syndrome in Zhejiang Province
- The use of a radiolucent template to improve bone age X-ray quality (BASIC study)
- How often are clinicians performing genital exams in children with disorders of sex development?
- Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis
- Higher phthalate concentrations are associated with precocious puberty in normal weight Thai girls
- Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
- Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
- Case Reports
- Diabetic ketoacidosis, hyperuricemia and encephalopathy intractable to regular-dose insulin
- A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
- High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum
- A newborn with combined pituitary hormone deficiency developing shock and sludge
- Acknowledgment
Artikel in diesem Heft
- Frontmatter
- Mini Review
- Marine-Lenhart syndrome in two adolescents, including one with thyroid cancer: a case series and review of the literature
- Original Articles
- The role of enterovirus infections in type 1 diabetes in Tunisia
- Serum progranulin levels in relation to insulin resistance in childhood obesity
- Relation between circulating oxidized-LDL and metabolic syndrome in children with obesity: the role of hypertriglyceridemic waist phenotype
- Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand
- Thyroid evaluation of children and adolescents with Williams syndrome in Zhejiang Province
- The use of a radiolucent template to improve bone age X-ray quality (BASIC study)
- How often are clinicians performing genital exams in children with disorders of sex development?
- Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis
- Higher phthalate concentrations are associated with precocious puberty in normal weight Thai girls
- Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
- Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
- Case Reports
- Diabetic ketoacidosis, hyperuricemia and encephalopathy intractable to regular-dose insulin
- A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
- High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum
- A newborn with combined pituitary hormone deficiency developing shock and sludge
- Acknowledgment