Introduction: Allgrove syndrome is a genetic disorder of autosomal recessive inheritance associating in its complete form: Esophageal achalasia; alacrymia and adrenal insufficiency. This is generally an adreno-corticotropic hormone (ACTH) resistant. In this context we report the case of a patient followed in the endocrinology department.
Case: This is the case of a boy who comes from a consanguineous marriage, with family history of hypogonadotropic hypogonadism in one sister. Its history goes back to the age of 2 years by the discovery of a micropenis associated with bilateral cryptorchidism, where the diagnosis of hypogonadotropic hypogonadism was retained and the patient benefited orchidopexy and hormone replacement therapy and an alacrymia for which he is put under artificial tears. At the age of 22, he developed an adrenal insufficiency confirmed by a low level of serum cortisol contrasting with ACTH raised to 90 pg / ml. For a few years he has been reporting the notion of dysphagia and in front of the association of an alacrymia and addison's disease the diagnosis of allgrove has been strongly suspected and the patient has benefited from a genetic investigation.
The result of molecular analysis has revealed the majority mutation in the homozygous state (IVS14 + 1G → A) by targeted molecular analysis of the AAAS gene, confirms the diagnosis of Allgrove in our patient.
Conclusion: Allgrove syndrome is a rare pediatric disorder, associating alacrymia and achalasia that are constant and early, and a less constant adrenal insufficiency. These disorders are at the origin of an alteration of the quality of life of the patients imposing a multidisciplinary care and especially a genetic advice in the siblings.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology