Two cases of reversible male infertility due to congenital adrenal hyperplasia combined with testicular adrenal rest tumor

Cases

Testicular adrenal rest tumor (TART) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia (CAH). Here are reported two cases of TARTs that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.

Outcome

In one case, the semen analysis was improved from oligoasthenozoospermia to normozoospermia after taking oral glucocorticoid supplementation. The other case of original azoospermia showed that sperm had ejaculated into the semen after taking oral glucocorticoid supplementation.

Conclusion

Although the prevalence of TARTs in male infertility is very rare, it is important to know how to approach this disease, considering the curable pathology of spermatogenesis and tumors resembling an appearance to germ cell tumors.     

Reversible infertility in a man with 21-hydroxylase deficiency congenital adrenal hyperplasia

OBJECTIVE: To report a case of an azoospermic man diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia who successfully conceived with intrauterine insemination (IUI) after hormonal and clomiphene citrate (CC) treatment. DESIGN: Case report. SETTING: Outpatient practice and academic hospital. PATIENT(S): A 32-year-old azoospermic man who presented for evaluation of male factor infertility. INTERVENTION(S): Semen analysis, ultrasonography, endocrinologic assays, hormonal treatment, CC, and IUI. MAIN OUTCOME MEASURE(S): Semen analysis demonstrating increased sperm count and motility, ultrasonography demonstrating persistent nodules in bilateral testes, endocrinologic assays demonstrating elevated FSH and LH after CC treatment. RESULT(S): Successful intrauterine pregnancy after IUI using the patient's sperm. CONCLUSION(S): Clomiphene citrate treatment in addition to hormonal manipulation in azoospermic patients with congenital adrenal hyperplasia can be successful in improving sperm count and motility to allow for successful conception using IUI. The presumed adrenal rests in the testes may not involute after adrenal suppression.     

Fertility outcome in male and female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

ObjectiveTo investigate fertility in a sample of Tunisian patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.DesignTunisian bicentric prospective study.SettingEndocrinology department, Hedi Chaker Hospital, Sfax, Tunisia and Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Mahdia, Tunisia.Materials and methodsTwenty-six patients (11 M; 15 F), aged 16.5–48 years, were enrolled. Clinical, biological, hormonal and ultrasound examinations were performed to assess fertility.ResultsEighteen had the classical form and eight the non classic. One patient had palpable testicular nodule. Inhibin B level was decreased in four male patients. Semen analysis showed abnormalities in four of 10 patients. Testicular adrenal rest tumors (TARTs) were detected in 6/11 patients. Menstrual disorders and hirsutism were noted in four and nine female patients, respectively. Six patients showed polycystic ovary syndrome. Anti-Mullerian hormone level was reduced in four female patients. Among four female patients who wished to get pregnant, two of them achieved one successful pregnancy, miscarriage occurred in one patient and the remaining patient was sterile. Fertility issues in our patients appeared to be related to poor hormonal control and a result of noncompliance with medication schedules.ConclusionFertility in male and female patients with CAH is reduced. Early and adequate glucocorticoid therapy along with good compliance, careful monitoring of androgen levels and continuous psychological management could contribute to improved fertility rates in this population, even among those with the severe variant.     

Para-ovarian adrenal rest tumors: gynecologic manifestations of untreated congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is an inherited disorder of adrenal steroidogenesis often diagnosed in infancy. Gynecologists may encounter adult patients with CAH due to the clinical effects of increased androgens, e.g. hirsutism, clitoromegaly, oligomenorrhea, or, rarely, pelvic masses. This case report reviews the association of para-ovarian adrenal rest tumors with CAH, and the role of gynecologists in their evaluation and treatment. A 23-year-old woman with CAH (21-hydroxyase deficiency) untreated for the past 5 years presented with a pelvic mass and elevated serum testosterone (1433?ng/dL) and plasma ACTH (1117?pg/mL). Intraoperative findings revealed multiple retroperitoneal masses. Final pathology demonstrated adrenal rest tissue. Para-ovarian and ovarian adrenal rest tumors may present as a rare gynecologic manifestation in patients with untreated CAH.     

Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity

OBJECTIVE: To show that, with appropriate therapy, women with classic congenital adrenal hyperplasia (CAH) can become pregnant. DESIGN: Observational clinical study. SETTING: University hospital. PATIENT(S): Adult young women with CAH: three with the salt-wasting form and four patients with simple virilizing CAH due to severe homozygous or compound heterozygous mutations of the CYP21B gene (deletions, I172N in exon 4 and nt656A/C-->G in intron 2) who wished to become pregnant. INTERVENTION(S): After confirmation in the first patient of the beneficial effect of additional treatment with fludrocortisone in lowering 17alpha-hydroxyprogesterone (17-OHP) levels, five other patients were treated with hydrocortisone as three daily doses at 8-hour intervals and fludrocortisone 0.1-0.2 mg daily divided into two to three doses. One patient received glucocorticoid alone. MAIN OUTCOME MEASURE(S): Treatment was controlled on the basis of morning salivary 17-OHP estimates and plasma renin concentrations. RESULT(S): Nine pregnancies occurred in six women. The course of the pregnancies (except one spontaneous abortion) was normal without any other modification of therapy. Only the women treated with hydrocortisone alone did not become pregnant. CONCLUSION(S): When treated with a combination of glucocorticoids and mineralocorticoids, sexually active patients with the classic phenotype of CAH can become pregnant.     

Hydrops of placental stem villi complicated with fetal congenital adrenal hyperplasia

The authors present a case report of hydrops of placental stem villi. Numerous small aechoic spaces were demonstrated by prenatal ultrasonography. The patient spontaneously delivered a female newborn at 26 weeks’ gestation. The infant showed hypertrophied clitoris and urogenital sius, and had a normal 46, XX karyotype. Endocrinological examination revealed that 3β-hydroxysteroid dehydrogenase deficiency caused the anomaly. To our knowledge, this is the first report that congenital genital malformation complicated the placental mesenchymal dysplasia. Received: 3 December 1999 / Accepted: 29 February 2000     

The importance and implications of preconception genetic testing for accurate fetal risk estimation in 21-hydroxylase congenital adrenal hyperplasia (CAH)

Preconception genetic testing should be offered to all patients with 21-hydroxylase congenital adrenal hyperplasia. We report how the preconception genetic testing of a lady and her partner dramatically changed the estimated risk to their offspring and the major implications the results had on pregnancy planning. The risk of conceiving a female fetus with congenital adrenal hyperplasia brings in considerations of prenatal dexamethasone therapy and prenatal diagnosis. We also highlight the differences between genetic testing on a research and clinical basis.     

A steroid-cell tumor of the ovary resulting in massive androgen excess early in the gonadol steroidogenic pathway

We describe the case of a 35-year-old woman with an ovarian steroid-cell tumor secreting markedly elevated levels of testosterone (28.3 nmol/l), dehydroepiandrosterone sulfate (19.7 μmol/l), androstenedione (>34.7 nmol/l) and 17-hydroxyprogesterone (100.5 nmol/l) into plasma. We could find no report within the literature of androgens at the levels described in this patient. Herein we review the literature and discuss the possible endocrine etiology of the excess androgens observed in this case. We also discuss the differential diagnosis, investigation and interpretation of androgens of adrenal and ovarian origin.