Clinical and hormonal evaluation of twenty Egyptian patients with male pseudohermaphroditism due to 17-ketosteroid reductase deficiency

الملخص EN

Background : 17-ketoreductase deficiency is a frequent disorder among a highly inbred Arab population in the Gaza strip; Egypt, a neighbor country is hypothesized to be a hot area for this disorder.

The diagnosis is established in most patients at or after puberty when basal plasma androstenedione levels are high; data on prepubertal children are limited.

Aim of the Work : is clinical and biochemical description of twenty Egyptian patients with 17-ketoreductase deficiency and to increase the awareness for this often underdiagnosed disorder.

Methods : The following was done to the patients : detailed medical and family history, general and external genital examination to determine the phenotype, karyotyping, hormonal profile; basal and following dynamic tests (ACTH test, Dexamethasone suppression, and hCG stimulation).

Androgen therapy was tried in 12 cases either to facilitate corrective surgery or to help reassignment to male sex.

Results : Patients presented with variable degree of genital ambiguity and different sex of rearing.

Fifteen of them were prepubertal and five pubertal.

All patients had a 46 XY karyotype.

The value of hCG stimulation test in making the diagnosis of 17-ketoreductase deficiency was confirmed by a minimal plasma testosterone (T) but marked androstenedione w) response leading to A / T greater than 1.

Androgen therapy resulted in a good response with remarkable increase in the size of the phallus in eleven patients permitting reassignment to le sex in those patients.

Conclusion : Patients with ketoreductase deficiency can present with variable degrees of Genital ambiguity.

Dynamic tests are mandatory for the diagnosis.

A good response to androgen therapy characterizes most patients which can enable reassignment to male sex.