Purpose:We examined the significance of the CAG repeat polymorphism in the pathogenesis of cryptorchidism. Materials and Methods: Genomic deoxyribonucleic acid (DNA) was extracted from blood samples from 42 cryptorchid boys and from 31 non-cryptorchid control subjects. In the cryptorchid group, 7 had bilateral cryptorchidism and 6 had patent processus vaginalis in the contralateral side. To determine the number of CAG repeats, the DNA was amplified by polymerase chain reaction and sequenced. Results: The mean CAG repeat length in the AR gene was 22.5 (range 16 to 28) in patients and 21.5 (range 17 to 26) in controls (non-significant). Patients with bilateral cryptorchidism had a mean length of 24.3 (range 21 to 26) and patients with unilateral cryptorchidism and patent processus vaginalis in the contra lateral side had a mean of 25.2 (range 21 to 28), which was statistically different from controls (p = 0.015 and p = 0.005 respectively). Conclusion: CAG repeat length of the AR gene does not seem to play a major role in patients with unilateral cryptorchidism. However, in patients with bilateral undescended testis, a less functional androgen receptor through a longer polyglutamine chain may have a role in its pathogenesis. In the same way, patients with unilateral cryptorchidism a contralateral patent processus vaginalis have longer CAG repeats that might be responsible for a slower testicular descent and incomplete closure of the processus vaginalis.
An inherited predisposition to hypertension may increase susceptibility to nephropathy in type I diabetes. We evaluated the influence of a family history of essential hypertension on albuminuria in normotensive, normoalbuminuric type I diabetic patients. Forty-two diabetics (12.9±2.04 years) were divided into three groups according to tertiles of albumin excretion rate (group 1,1.27+0.35; group 2, 2.43±0.49; group 3, 6.37±3.43 jig/min; P<.001). Familial hypertension was considered to be present if the patient had one parent or grandparent on antihypertensive therapy. The three groups did not differ concerning age, diabetes duration, insulin requirement, body mass index, blood pressure, and urinary glucose excretion. Albumin excretion rate did not correlate with any parameter studied. The frequency of hypertension was significantly lower among the relatives of the patients from group 1 compared with those from groups 2 and 3 (28.6% versus 64.3% versus 78.6%, P<.03). Our data suggest that a familial antecedent of hypertension in normoalbuminuric type I diabetic patients is associated with a high normal albumin excretion rate not related to increases in blood pressure. Early changes in renal hemodynamics, seen in patients with a predisposition to hypertension, may contribute to increments in albuminuria even within the normal range. (Hypertension. 1994^3[suppl I]:I-256-I-258.)Key Words • diabetes mellitus, insulin-dependent • hypertension, essential • albuminuria • diabetic nephropathies R ecent studies have suggested that an inherited predisposition to essential hypertension (EH) may increase susceptibility to nephropathy in insulin-dependent diabetes mellitus (IDDM) based on the following arguments: (1) Nondiabetic parents of IDDM patients with nephropathy have higher blood pressure than parents of patients without proteinuria 1 ; (2) the rates of sodium-lithium countertransport, a marker of risk for EH, 2 have been found to be elevated in IDDM patients in whom the renal disease was developing 3 -4 ; and (3) hyperactrvity of Na-Li countertransport is also observed in diabetic patients even before the onset of nephropathy and is associated with hyperfiltration. 5 In fact, the influence of familial antecedents for EH on renal hemodynamics and sodium handling was evidenced by the comparison of normotensive IDDM offspring of hypertensive and nonhypertensive parents.6 However, possible influences on urinary albumin excretion in those patients without nephropathy were not investigated.This study evaluated the influence of a familial predisposition to EH on the albumin excretion rate (AER) in normotensive normoalbuminuric IDDM patients. aged 12.9±2.04 years, participated in this study after their parents' consent was obtained. IDDM duration ranged between 1.5 and 12 years. All patients were normoalbuminuric (as defined by AER < 15 /ig/min) and normotensive. Blood pressure was considered normotensive when systolic levels were less than 130 and diastolic levels less than 85 mm Hg over three recordings using a sta...
SummaryBackground: The normal 24-hour albumin excretion rate is of 20 mg. A persistent rate of 30 to 300 mg/day is called microalbuminuria and is related to a higher prevalence of cardiovascular disease.
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