Congenital Hypopituitarismin Saudi Arabia: Is it That Rare?

Rushaid Al-Jurayyan,Hessa Al-Otaibi,Reem Alkhalifah,Nasir Al-Jurayyan,Sharifah Al-Issa

doi:10.15344/2455-2364/2018/145

Rushaid Al-Jurayyan, Hessa Al-Otaibi + Show 3 more

Open Access

https://doi.org/10.15344/2455-2364/2018/145

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Abstract

Background: Congenital hypopituitarism is a clinical syndrome of deficiency in pituitary hormones production. Panhypopituitarism refers to involvement of more than one pituitary hormone while involvement of one hormone refers to partial hypopituitarism It is an uncommon disorder of the hypophyseal system but could be life threatening, however, it is treatable if the diagnosis is made early. Design and setting: A retrospective hospital based study was conducted at Pediatric endocrine service, King Khalid University Hospital ( KKUH ) Riyadh, Saudi Arabia during the period of January 1990 and December 2017. Material and Methods: The medical records of patients with the diagnosis of hypopituitarism were retrospectively reviewed. Data included age, sex, clinical presentation, and results of relevant laboratory investigations and radiological imaging. Results: During the period under review, a total of 177 patients were diagnosed with possible congenital hypopituitarism. The mean age was 6.5 years range 0-18 years. Seventy-five percent were having isolated hormone deficiency; Growth hormone 117 (87.9%), gonadotrophic hormone 8 (6.0%), central hypothyroidism 5 (3.8%) and adrenocorticotrophic hormone 3 (2.3%). In twenty- five percent of patients the diagnosis was multiple pituitary hormone deficiency (MPHD), in which septo-optic dysplasia and other midline defects, constitute the majority (56.8%). Diabetes Insipidus was found in association in five (2.5%) patients. Conclusion: Congenital hypopituitarism in not that rare in Saudi Arabia. An early diagnosis can be obtained with high accuracy based on a high clinical suspicion index. Imaging abnormalities are frequent and associated with the clinical and biochemical phenotypes. It had variable presentations, such as hypoglycemia, micro phallus in boys and neonatal cholestasis, or in association with midline defects. There is a need to compliment hormonal and radiological investigations with gene study.

Highlights

Congenital hypopituitarism is a clinical syndrome of deficiency in pituitary hormones production
During the period under review, a total of 177 patients were diagnosed with possible congenital hypopituitarism
Seventy-five percent were having isolated hormone deficiency; Growth hormone 117 (87.9%), gonadotrophic hormone 8 (6.0%), central hypothyroidism 5 (3.8%) and adrenocorticotrophic hormone 3 (2.3%)

Summary

Introduction

Congenital hypopituitarism is a clinical syndrome of deficiency in pituitary hormones production. Congenital hypopituitarism is associated with possible serious complications and long-term neurological sequelae, Neonates with congenital hypopituitarism may present with or without associated developmental defects, such as ocular, midline, and genital abnormalities. They may present with nonspecific symptoms, including hypoglycemia, lethargy, apnea, hemodynamic instability, jitteriness, seizures, poor weight gain, failure to thrive, temperature instability, recurrent sepsis and neonatal cholestasis. It is typically detected shortly after birth, but it may occur several weeks after the neonatal period. Genetic mutations in transcription factors gene involved in the embryogenesis of the pituitary gland such as HESX-1, PROP -1 and PIT-1 were reported and implicated in the pathogenesis of congenital hypopituitarism [5,6,7,8,9,10]

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