Endocrine Abstracts

Background: Triple A (Allgrove) syndrome is a rare genetic disorder with autosomal recessive inheritance, caused by mutations in the AAAS gene on chromosome 12q13. It is characterized by the following triad: ACTH-resistant adrenal insufficiency, alacrimia, and achalasia.

Case presentation: We present the case of a 19-year-old male who was diagnosed with adrenal insufficiency at the age of five following an addisonian crisis with hypoglycemic coma. At the time of the diagnosis, the patient had skin hyperpigmentation, a blood pressure of 80/60 mmHg, hyponatremia, and hyperkalemia, his glycemia was 8 mg/dl, the cortisol level was 2 μg/dl, with an ACTH of 1276 pg/ml. At the age of fifteen, after being evaluated for delayed puberty, the patient was diagnosed with hypogonadotropic hypogonadism and under treatment with testosterone enanthate he achieved complete pubertal development. The following year, he started to experience progressive dysphagia, more severe for liquids than solids, postprandial vomiting, and weight loss. The barium swallow revealed a bird beak appearance of the distal esophagus with a dilated thoracic esophagus. Esophageal manometry confirmed the diagnosis of achalasia type 1 for which the patient underwent peroral endoscopic myotomy. The patient’s mother also recalled the absence of tears since his early childhood and the Schirmer test was suggestive of alacrimia. In the presence of these cardinal features, the diagnosis of triple A syndrome was established.

Conclusions: The association of Allgrove syndrome with hypogonadotropic hypogonadism is rare, with only one other case reported in the literature: a two-year-old Tunisian patient, in whom a homozygous splice-donor site mutation (IVS14+1G>A) was found in the AAAS gene [1].

References: 1. Cherif Ben Abdallah L, Lakhoua Y, Nagara M, Khiari K, Elouej S, Messaoud O, et al. A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism. Horm Res Paediatr. 2014;82(5):338–43. doi: 10.1159/000365888.