A 29-year-old man presented with azoospermia due to primary infertility.
No family or personal history, asymptomatic and normal sexual life.
Physical presentation: 1.50 m, 63 kg, blood pressure 120-80 mmHg, without gynecomastia, well androgenized and great muscle development.
genital vesticele: normal penis, pubic hair V of Tanner, testicles of normal consistency, volume of 10 ml (Prader orchidometer, VN = 15-25 ml), epi vardime
Laboratory: 2 spermiograms with volume of 2 ml, pH 8, absence of sperm at direct examination and post centrifugation confirmed azoospermia.
Testosterone ng/ml (V N = 2-6 ng/ml), LH 2.0 mIU/ml (V N = 0.4-5.7) FSH 2.0 mIU/ml (V N = 2-15)
A normotestosteronic azoospermia with normal LH and no FSH loop was diagnosed obstructive azoospermia indicating testicular biopsy.
Histopathological report: Decreased size tubes with thick basement membrane and in some fibrotic areas; tubular epithelium composed almost exclusively of Sertoli cells in some areas scarce mature cells that do not reach.
Absence of Leydig cells.
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The histopathological diagnosis is not consistent with the diagnostic hypothesis for which the case was reassessed.
SCH was raised by phenotype: short stature, marked muscle development, decreased testicles of size, normal testosterone levels and low normal limit.
The patient was re-interrupted and reported no history of vomiting, diarrhea or hospitalization suggestive of mineral and glucocorticoid deficiency.
Classical SCH was diagnosed by elevation of 17 hydroxyprogesterone basal and post ACTH stimulation.
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Administration of cloased citrate (100 mg/day for 10 days) showed a decrease in cloased and no elevation of T compatible with HH.
The normal response is an increase of 100% in the T and an increase of 5%.
No renina activity (an activity of renina raised, would suggest mineralocorticoid deficit), androstenediona, or study of mutations in the gene of 21 hydroxylasa.
Testicular ultrasound : testicles of decreased size, there is no evidence of intratesticular nodules.
Diagnostic conclusion
Azoospermia of pretesticular cause due to hypogonadotropic hypogonadism secondary to SCH due to 21 hydroxylase deficiency, pure virilizing form.
Therapy and evolution
Betamethasone, 0.6 mg at 23 hours.
Table 2 shows the evolution of hormone levels, spermogram and testicular development, pre-therapy and at 90 and 240 days of therapy.
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We highlight a decrease of 17 hydroxyprogesterone, initial testosterone decrease followed by an increase to the normal range, normalization of testes, testicular volume and spermiogram.
Spontaneously managed under therapy with normal newborns on two occasions.
