A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism
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Nurin Jivani
Abstract
Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.
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
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©2016 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Editorial
- Puberty – genes, environment and clinical issues
- Puberty
- Increased levels of bisphenol A (BPA) in Thai girls with precocious puberty
- Efficacy and safety of triptorelin 6-month formulation in patients with central precocious puberty
- Monitoring treatment of central precocious puberty using basal luteinizing hormone levels and practical considerations for dosing with a 3-month leuprolide acetate formulation
- Original Articles
- Association between the triglyceride to high-density lipoprotein cholesterol ratio and insulin resistance in Korean adolescents: a nationwide population-based study
- Progression from impaired glucose tolerance to type 2 diabetes in obese children and adolescents: a 3–6-year cohort study in southern Thailand
- Investigation of the inflammatory biomarkers of metabolic syndrome in adolescents
- A 10-year experience using combined lipid-lowering pharmacotherapy in children and adolescents
- Prevalence of medically treated children with ADHD and type 1 diabetes in Germany – Analysis of two representative databases
- Association of short stature with life satisfaction and self-rated health in children and adolescents: the CASPIAN-IV study
- Case Reports
- Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication
- Non-androgen secreting adrenocortical carcinoma in preadolescence: a case report and literature review
- Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience
- A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism
