Balanced reciprocal translocation t[X;1///////////////] in a girl with tall stature and primary amenorrhea

Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to nonrandom X-inactivation. In this article, we describe a healthy 15.5-year-old girl with primary amenorrhea, gonadal dysgenesis, and tall stature without other manifestations of the Turner syndrome. Relevant clinical, biochemical, endocrinological, and cytogenetical evaluations were performed. Initial investigations revealed hypergonadotropic hypogonadism [FSH=134 mIU/mL [normal=10-15 mIU/mL], LH=47.5 [normal=10-15 mIU/mL], and estradiol=24.3 pmol/L]. On ultrasound examination of the pelvis, streak ovaries with a hypoplastic uterus were noted. Chromosome study, performed according to routine procedures, revealed an apparently balanced reciprocal translocation involving the short arm of chromosome 1[p2] and the long arm of the X chromosome [q2] in all the cells with the following karyotype: 46,X,t[1;X][p13;q22]. She was placed on hormone replacement therapy. In our patient, X-autosome translocation was associated with gonadal dysgenesis and tall stature. We conclude that t[X;1] may be associated with gonadal dysgenesis without other congenital abnormalities. To our knowledge, normal phenotype with gonadal dysgenesis and tall stature in association with t[X;1] translocation has not been previously reported

Tuberous sclerosis with hypertension and abdominal pain in a child

Hypertension in children is not as frequent as adults. In addition, most of the times, we encounter secondary hypertension rather than essential hypertension in children. This demands careful history taking, physical examination, and laboratory and imaging investigations to find the underlying cause. Here, a boy with tuberous sclerosis is reported who presented with hypertension and abdominal pain associated with bilateral renal cystic disease

Frequency of microalbuminuria in type 1 diabetic children

Diabetic nephropathy is a serious complication of type 1 diabetes which involves one third of the patients. The aim of this study was to estimate the frequency of microalbuminuria in type 1 diabetic patients visited in Pediatric Endocrine Clinic in Hamedan, west province of Iran, in 2007. Diabetic patients visited in Pediatric Diabetes Clinic were enrolled in the study. Variable data such as age, sex, duration of the disease, stage of puberty, dose of insulin/kg/day, and blood pressure of the patients were obtained according to history and physical examination. 24h urine samples were collected for protein, creatinine, and microalbumin. Data analysis was assessed using independent t-test and chi-square test. One-hundred five patients [56 females and 49 males] with a mean age of 13.3 +/- 5.5 years, were evaluated. Fifteen [14.3%] cases had microalbuminuria. Mean age in microalbuminuric group was 16.2 +/- 2.8, in non-microalbuminuric group 12.7 +/- 5.6 years [P=0.024]. Mean duration of diabetes was 9.1 +/- 3.2 yr in microalbuminuric and 4.5 +/- 3.9 in non-microalbuminuric group. There was a significant correlation between duration of diabetes and microalbuminuria [P<0.001]. Blood pressure was normal in 95.5% of the patients while in patients with microalbuminuria 73.3% had hypertension [P<0.001]. Frequency of microalbuminuria was higher in patients taking lower doses of insulin corrected to their body weight [P=0.008]. Frequency of microalbuminuria was significant, so regular screening is highly recommended for early detection and timely treatment of diabetic nephropathy in order to prevent progression to end stage renal disease

Continuous ambulatory peritoneal dialysis for a patient with Bardet-Biedl syndrome

Bardet-Biedl syndrome [BBS] is a multisystem syndrome with a range of primary and secondary features. Kidney abnormalities are a major cause of morbidity and mortality in BBS and it is a significant genetic cause of chronic kidney disease in children. Conventional approach to end-stage renal disease in these patients is hemodialysis and kidney transplantation afterwards. Continuous ambulatory peritoneal dialysis, however, is not a commonly advocated modality in literature. In this report, we present a boy with BBS who underwent continuous ambulatory peritoneal dialysis, which resulted in control of kidney function impairment and better compliance for his family than hemodialysis before kidney transplantation. Of note, this is a rare case of BBS complicated with end-stage renal disease in the first decade of life