Fourteen 46,XX "males" were analyzed by Southern blot hybridization with seventeen different Y chromosome-derived DNA probes and by the polymerase chain reaction for an additional two sites on the short arm of Y. Eight 46,XX males possessed various segments of the short arm of the Y chromosome, including the sex determining region. The detected segments ranged from the two most distal loci to nearly the entire length of the short arm, viz., 10 out of 11 loci. None of the eight patients had hypospadia. Five out of the six remaining cases had hypospadia and no Y sequence was detected, suggesting the presence of a causative difference between hypospadiac and non-hypospadiac groups.
Objective: A family is described which has a unique combination of autosomal dominant hypoparathyroidism and sensorineural deafness without renal dysplasia. Case report: The proband was a male infant aged 1 month with episodes of seizures for 20 days. He was born at 35 weeks' gestation without asphyxia, weighing 2040 g. His initial calcium, phosphorus and percentage of tubular reabsorption of phosphorus were 6.8 mg/dl (normal range 8.5-10.5 mg/dl), 8.9 mg/dl (normal range 5.5-7.4 mg/dl) and 96.8% (normal range 85-95%) respectively. He had normal values for serum parathyroid hormone (PTH) and 25-hydroxyvitamin D. No abnormalities were found by renal imaging and a routine renal function study. He showed a brisk plasma cAMP increase in response to human PTH-(1-34) infusion. He had normal karyotype 46, XY, without a microdeletion in chromosome 22q11.2 by an in situ hybridization method. Five family members were affected with hypoparathyroidism with sensorineural deafness with autosomal dominant transmission. The study of calcium-sensing receptor and preproPTH gene showed a normal DNA sequence. Conclusion:The combination of familial hypoparathyroidism with sensorineural deafness without renal dysplasia is novel and the cause may be distinct from previously reported familial hypoparathyroidism with sensorineural deafness and renal dysplasia.
Disseminated angiokeratoma were seen in a 14-year-old Japanese boy with an inherited deficiency for alpha-L-fucosidase. He had gargoylian features, psychomotor retardation, small stature, vertebral changes, pale nail beds, recurrent infections and hypohidrosis in addition to angiokeratoma.In the areas of angiokeratoma, we found thin-walled dilated capillaries in the upper dermis. Several nondistended small blood vessels and eccrine sweat glands of secretory coils and ducts appeared narrowed by swollen epithelial cells with a finely vacuolated cytoplasm. In the pale nail bed, we found thickened dermis without an increased number of blood vessels.Electron microscopic studies showed endothelial cells of dermal capillaries and eccrine sweat gland epithelium were extensively enlarged: their cytoplasm was occupied by numerous electronlucent, membrane-limited vacuoles containing scant, finely granular or electronlucent material. In the myoepithelial cells of sweat gland and in the cytoplasm of Schwarm cells, lamellar membranebound inclusions were seen.
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