Triple A syndrome presenting with myopathy: an Egyptian patient

Triple A syndrome [Allgrove syndrome] is a rare, autosomal recessive disorder characterized by Adrenocorticotropic hormone resistant adrenal insufficiency, Alacrmia, Achalasia of the oesophageal cardia, progressive neurological degeneration and occasionally autonomic instability [making it 4A syndrome]. Reported neurological abnormalities included developmental delay, ataxia and polyneuropathy with sensory, motor and autonomic components, long-tract degeneration, parkinsonism and mild dementia. In this paper we report a 13 year old boy with Allgrove syndrome presenting with muscular weakness that was confirmed by EMG studies. To our knowledge, muscle disease in Allogrove syndrome was not reported before

Prevalence of thyroid autoantibodies in Down syndrome

The prevalence of antithyroperoxidase antibodies in 40 infants and children with Down syndrome was determined and compared with their prevalence in 40 healthy children. The association of antithyroperoxidase antibodies and thyroid dysfunction in this group of Down syndrome patients was also studied. Twenty-six Down syndrome patients were positive for antithyroperoxidase antibodies; while in the control group, only 6 were positive. Thirteen Down syndrome patients had subclinical hypothyroidism, i.e. normal T4 and raised TSH [>5 ml U/ml]. Eight of them were positive for antithyroperoxidase antibodies. In the control group, five patients had sub-clinical hypothyroidism and two patients were positive for antithyroperoxidase antibodies. This supported the observation that the most frequently observed thyroid abnormality appears to be subclinical hypothyroidism in patients with Down syndrome

Leptin and puberty in boys

To determine the relationship of leptin to the onset of puberty, serum leptin levels were measured in 29 healthy boys [14 in Tanner stage 1 and 15 in Tanner stage 2] and 15 boys with delayed puberty. Auxological parameters as height, weight, BMI, biceps, triceps and suprailiac skin fold thickness and bone age were determined for all boys. LH, FSH and testosterone were measured before and after triptorelin stimulation for boys with delayed puberty. Healthy prepubertal boys [group one] had a mean leptin level of 8.94 +/- 4.33 ng/ml, those in early puberty [group two] had a mean leptin level of 6.95 +/- 4.5 ng/ml, while boys with delayed puberty [group three] had a mean leptin value of 2.59 +/- 0.99 ng/ml, which was significantly lower than the leptin levels in both groups. Also, boys with delayed puberty had significantly lower values for BMI, BMI SDS and weight for height SDS when compared with the other two groups. When BMI SDS was corrected for bone age for children with delayed puberty, it was still significantly lower when compared with the other two groups. This may explain the low values of leptin observed in boys with delayed puberty, especially that no significant difference was observed between the three groups as regards skin fold thickness