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Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia

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Published/Copyright: December 11, 2018
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 32 Issue 1

Abstract

Background

The genetic causes of abnormal pituitary development have been extensively studied in the last few years. ROBO1 is involved in neurogenesis and axon guidance. Loss-of-function variants in ROBO1 have been associated with pituitary stalk interruption syndrome (PSIS), suggesting that its haploinsufficiency could impair the guidance of hypothalamic axons to the pituitary gland leading to developmental abnormalities.

Case presentation

We report a 4.5-year-old girl with anterior pituitary hypoplasia and pituitary stalk duplication in the ventral-dorsal direction. Her father had a similar pituitary phenotype, characterized by anterior pituitary hypoplasia combined with ectopic posterior pituitary. Comparative genomic hybridization (CGH) microarray analysis identified a 343.7 kb deletion of 3p12.3 encompassing ROBO1 in both individuals.

Conclusions

We report the first familial ROBO1 deletion in two individuals with peculiar pituitary anomalies, including the rare pituitary stalk duplication in the ventral-dorsal direction. These findings widen the spectrum of the phenotypes associated with ROBO1 haploinsufficiency and support its role in human pituitary development.

Keywords: pituitary gland development; pituitary stalk duplication; Roundabout receptor 1
Corresponding author: Marcello Scala, MD, UOC Neurochirurgia, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, Genoa 16147, Italy; and Università degli Studi di Genova, Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili (DINOGMI), Via Balbi 5, Genoa 16126, Italy, Phone: +39 01056363847

Acknowledgment

We thank the patient’s family for the support and the consent to the publication of this paper.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. 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.

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Received: 2018-06-22
Accepted: 2018-11-17
Published Online: 2018-12-11
Published in Print: 2019-01-28

©2019 Walter de Gruyter GmbH, Berlin/Boston

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https://doi.org/10.1515/jpem-2018-0272
Keywords for this article
pituitary gland development; pituitary stalk duplication; Roundabout receptor 1

Articles in the same Issue

  1. Frontmatter
  2. Original Articles
  3. Status and trends in the use of insulin analogs, insulin delivery systems and their association with glycemic control: comparison of the two consecutive recent cohorts of Japanese children and adolescents with type 1 diabetes mellitus
  4. Utilizing serum bicarbonate instead of venous pH to transition from intravenous to subcutaneous insulin shortens the duration of insulin infusion in pediatric diabetic ketoacidosis
  5. Fatty pancreas in relation to insulin resistance and metabolic syndrome in children with obesity
  6. Adiponectin, leptin and high sensitivity C-reactive protein values in obese children – important markers for metabolic syndrome?
  7. No clinical utility of common polymorphisms in IGF1, IRS1, GCKR, PPARG, GCK1 and KCTD1 genes previously associated with insulin resistance in overweight children from Romania and Moldova
  8. Skin autofluorescence in children with and without obesity
  9. Utility of anthropometric indicators to screen for clustered cardiometabolic risk factors in children and adolescents
  10. Long-acting intramuscular ACTH stimulation test for the diagnosis of secondary adrenal insufficiency in children
  11. The effect of thyroid functions on osteopenia of prematurity in preterm infants
  12. Using the PHQ-9 and GAD-7 to screen for acute distress in transgender youth: findings from a pediatric endocrinology clinic
  13. Sex assignment practice in disorders of sexual differentiation: survey results from paediatric endocrinologists in the Arab region
  14. Letter to the Editor
  15. Columbus’ egg: a practical approach to nutritional management in maple syrup urine disease
  16. Case Reports
  17. Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2
  18. A Turkish girl with H syndrome: stunted growth and development of autoimmune insulin dependent diabetes mellitus in the 6th year of diagnosis
  19. Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia
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