Background: 14½ year old girl presented with increased skin pigmentation, weakness of limbs and walking difficulty and delayed puberty.
Objective and hypotheses: To evaluate the girl for the aetiology of hyperpigmentation, neuromuscular weakness and delayed development of secondary sexual characters.
Method: The girl was evaluated by neurologist and found to have development delay, sensory and motor neuropathy, ataxia, amyotrophy and dysautonomia. Referred to endocrinologist for skin and mucosal hyperpigmentation. On evaluation, Serum cortisol was 125.9 nmol/l and Adreno-CorticoTrophic Hormone 1250 pg/ml. Primary adrenal insufficiency was diagnosed and she was started on hydrocortisone and fludrocortisone replacement. Subsequent Follicle Stimulating Hormone was 38.58mu/ml and Leutinizing Hormone 17 mu/ml, with an Estradiol value of 34 pg/ml. Ultrasound revealed infantile uterus and ovaries were not visualized. A possible diagnosis of Autoimmune Polyglandular Syndrome type 2 was entertained.
Results: CT ordered by neurophysician revealed achalasia cardia and another MRI revealed alacrimia, thus leading to a diagnosis of Allgroves syndrome. However, this could not explain sensory motor neuropathy and delayed puberty. MRI abdomen revealed small ovaries. Karyotype was 47XXX.
Conclusion: A combination of Triple A (Allgroves) syndrome and Triple X syndrome, resulted in the complex clinical findings of this disorder with development delay, sensory and motor neuropathy and delayed puberty due to 47XXX syndrome and adrenal insufficiency, achalasia, alacrimia and dysautonomia resulting from Allgroves syndrome. She has also been started on estrogen replacement in addition to adrenal steroid replacement.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology