ESPE Abstracts (2022) 95 P2-244

Hussein-Dey University Hospital Center, Algiers, Algeria


Introduction: Pituitary deficiency, or hypopituitarism, is defined by insufficient synthesis of one or more anterior pituitary hormones (growth hormone, TSH, ACTH, LHFSH, prolactin) associated or not with diabetes insipidus (ADH deficiency). In children it is more frequently congenital, due to abnormal pituitary development; it is then a rare disease with an estimated prevalence of between 1/16.000 and 1/150.000.

Case report: A 2-month-old female infant, the first full-term born of a consanguineous couple. The diagnosis is revealed by the presence since the neonatal period : of hypotonia, prolonged jaundice as well as recurrent hypoglycaemia suggestive of a hypotalamo pituitary deficit. Hormonal exploration revealed combined pituitary damage : adrenal insufficiency, central hypothyroidism with GH deficiency. RMI showed hypoplasia of the anterior pituitary. the malformative assessment returned to normal.

Discussion: Our patient presented a severe anterior pituitary deficit explaining the clinical picture. the diagnosis of congenital hypopituitarism is important from birth to avoid hypoglycaemia and adrenal insufficiency and their cerebral and vital risks. the prognosis is good if diagnosed and treated early.

Conclusion: Congenital hypopituitarism is a rare disease. responsible for an isolated or combined deficit. MRI is currently the most efficient means for diagnosis and a prognostic approach. Treatment is based on hormone replacement therapy. Between 80 and 90% of congenital hypopituitarism cases remain unresolved in terms of molecular genetics.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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