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PubMedDate not supplied

Laboratory evaluation of the adrenogenital syndrome.

The adrenogenital syndrome is a result of the deficiency of one of the enzymes involved in the pathway leading to the synthesis of cortisol by the adrenal cortex. Laboratory evaluation of the adrenogenital syndrome involves measurement of hormones and metabolites accumulated prior to the enzymic block as well as hormones whose synthesis is affected by deficiency of a specific enzyme. Laboratory measurements of hormone metabolites in urine, because of their nonspecificity, lack of sensitivity, and multiple assay steps resulting in poor yield, have been supplanted by specific and sensitive radioimmunoassays of steroid hormones in plasma. In the laboratory evaluation of the adrenogenital syndrome, problems involved in some of the immunoassays of selected hormones should be addressed. Variables owing to specimen collection, storage and handling, and the assay itself should be minimized and controlled.

3-Hydroxysteroid Dehydrogenases↗
PubMed1992

Testicular masses in association with adrenogenital syndrome: US findings.

Adrenogenital syndrome (AGS) is the result of inborn enzymatic defects in the synthesis of steroid hormones. The production of cortisol is deficient and that of adrenocorticotropic hormone is increased. Sometimes male patients have clinically detectable testicular lesions, known as testicular tumors of AGS (TTAGS). From 1985 to 1991, scrotal ultrasonography (US) was performed in 30 consecutive pubertal and postpubertal patients with AGS to investigate the prevalence and US characteristics of TTAGS. Eight of 30 patients had a testicular lesion (27%); six of the eight lesions were clinically undetected. The mean diameter of the lesions was 16.44 mm (range, 2-28 mm). The lesions were hypoechoic in all cases, with well-defined margins in six cases. The nodules were multifocal in all patients and bilateral in six (75%). If testicular lesions are present in a patient with AGS, TTAGS are likely, and frequent US monitoring is adequate for diagnostic evaluation.

Adolescent↗
PubMed2002

[Adrenogenital syndrome: feminizing genital reconstruction].

Adrenogenital syndrome, or so called congenital adrenal hyperplasia, is caused by a congenital insufficiency of the enzyme 21-hydroxylase, which is responsible for converting cortisol into cholesterol. Because of virilizing effect of androgens overproduction girls develop clitoral hypertrophy and persistent urogenital sinus (common channel for urethra and vagina). Surgical treatment is recommended in order to repair those developmental faults. The aim of this study was to employ the contemporary surgical techniques and to evaluate the postoperative results. Forty-seven patients affected by adrenogenital syndrome were investigated and treated at two institutions: Departments of Pediatric Surgery of Copenhagen University Hospital and Kaunas Medical University Hospital. Forty-three patients have been operated and underwent genitoplasty. Surgical method was chosen individually depending on the height of the urogenital sinus. In a case of low sinus a simple cut-back procedure was performed. In a case of high sinus the more complex procedure such as total urogenital mobilization or vaginal pull through would be involved. All patients underwent vaginal dilatations for 6-12 months postoperatively. Twenty-eight patients underwent clitoroplasty while the glans and the neurovascular bundle were preserved and clitoral skin used for plasty of the labia minora. Postoperatively the patients were observed for 0.5-5 years, the close results showed to be good. There were 4 cases of vaginal stenosis and 2 cases of urethrovaginal fistula (all successfully repaired later). Early one staged genitoplasty and postoperative vaginal dilatations for the period of 6-12 months is recommended.

Adolescent↗
PubMed1998

Tumors of the adrenogenital syndrome: an aggressive conservative approach.

PURPOSE: Testicular masses in male individuals with the adrenogenital syndrome are a clinical and pathological diagnostic dilemma. The major differential diagnosis of gonadal nodules in this setting includes interstitial Leydig cell tumors and secondary benign tumors of possible adrenal rest origin. Management of these 2 entities obviously differs. We report clinical, biochemical and pathological features in 3 children with rare bilateral testicular masses and the adrenogenital syndrome in an attempt to define better the natural history of these entities and formulate recommendations for management. MATERIALS AND METHODS: All 3 patients had a history of precocious puberty. Two boys were diagnosed with the adrenogenital syndrome at birth, and presented with bilateral testicular masses at ages 5 and 17 years, respectively. The remaining patient was diagnosed at age 15 years after testicular and adrenal masses developed. All 3 cases were classified as 21-hydroxylase deficiency with markedly elevated levels of 17-hydroxyprogesterone, dehydroepiandrosterone, adrenocorticotropic hormone and androstenedione. Testosterone levels were mildly elevated above normal age matched values. Testicular biopsies were done in each case. RESULTS: Two cases were initially interpreted as bilateral Leydig cell tumors but they were histologically reclassified as tumors of the adrenogenital syndrome. The other case was diagnosed as interstitial cell hyperplasia. Although corticosteroid therapy corrected each steroid abnormality, in no case did tumors resolve, but there was gradual regression in 1. Each patient has been followed conservatively for 4 years. There has been no increase in tumor size or evidence of metastatic disease. CONCLUSIONS: Bilateral testicular masses in children with the adrenogenital syndrome may mimic Leydig cell tumors, which also commonly cause precocious puberty. Orchiectomy for Leydig cell tumors in boys with precocious puberty is contraindicated without a complete endocrinological profile. When congenital adrenal hyperplasia is diagnosed, these tumors appear to be derived from cells of possible adrenal origin stimulated by adrenocorticotropic hormone and they may be followed conservatively.

Adolescent↗
PubMed1997

Anterior sagittal transanorectal approach to the urogenital sinus in adrenogenital syndrome: preliminary report.

In the female adrenogenital syndrome, the treatment of the urogenital sinus with high implanted vagina still presents a surgical challenge. The conventional technique (perineal vaginal pull-through) has been plagued by a high incidence of vaginal stenosis. A posterior sagittal transanorectal approach was proposed as an alternative to obtain an excellent exposure and thus an adequate mobilization of the vagina. But bivalving a normal rectum and anus has the potential for compromising bowel control and represents a bold maneuver, and the rectum and sphincteric mechanism must be meticulously reconstructed. In the original procedure a protective colostomy must be performed before the operation. To reduce these disadvantages, the authors made the following modifications: sagittal incision of only the anterior rectal wall (Anterior Sagittal Transanorectal Approach--ASTRA) and protective colostomy at the same time as the operation. In this way, maintaining the same excellent exposure and reducing the number of operations from three to two, we operated on 10 girls with adrenogenital syndrome: 4 with high, 3 with intermediate urogenital sinus, and 3 who had previously undergone vaginal pull-through but experienced a vaginal retraction with severe stenosis. At the time of surgery four patients were under 1 year (mean, 9.25 months) and six were from 2 to 11 years of age (mean, 6.5 years). After closing the colostomy, all patients were continent in stools and urine, and the vagina looked normal. The authors suggest using this modified approach as an alternative to the conventional operation and for those patients in whom other techniques have failed.

Adrenal Hyperplasia, Congenital↗
PubMed1997

Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome.

PURPOSE: Surgical management of steroid unresponsive testicular tumors of the adrenogenital syndrome has been orchiectomy. Magnetic resonance imaging (MRI) of these tumors accurately delineates the extent of disease. Testis sparing surgery is an important consideration, since male individuals with congenital adrenal hyperplasia are potentially fertile. We present our results of surgical management of this tumor based on MRI findings. MATERIALS AND METHODS: Four boys with steroid unresponsive testicular tumors of the adrenogenital syndrome were evaluated with MRI, testicular ultrasound and color flow Doppler examinations preoperatively and postoperatively. Three patients had 21-hydroxylase deficiency and 1 had 3-beta-hydroxysteroid dehydrogenase deficiency. Contralateral testicular abnormalities included a vanished testis, testicular atrophy due to trauma and bilateral tumors in 1 boy each. Bilateral orchiectomy and surgical enucleation were performed in 1 and 3 patients, respectively. Followup ranged from 8 to 18 months. RESULTS: Postoperative MRI of the testis in 2 of 3 patients showed no evidence of recurrent tumor. Postoperative testicular sonography revealed no tumor and vascular flow in 2 of 3 patients. All 3 patients who underwent testis sparing surgery have a viable testis in the scrotum without evidence of recurrent disease. CONCLUSIONS: MRI of the testis in patients with testicular tumors of the adrenogenital syndrome accurately defines the extent of disease. Surgical enucleation of this tumor has been performed successfully without recurrent disease. This surgical approach should be considered for any patient with a steroid unresponsive tumor and contralateral abnormalities. We believe that surgical enucleation is the procedure of choice for all patients with this tumor, since it maximizes future fertility potential.

Adolescent↗