[Perfect male external genital development and salt-loss syndrome in girls with congenital adrenogenital syndrome].
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Adrenal Hyperplasia, Congenital↗
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[Bilateral testicular masses in the scope of adrenogenital syndrome].
Testicular masses in male individuals with the adrenogenital syndrome (AGS) 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 possibly of adrenal origin. We report a case of adrenogenital syndrome occurring in a 14-year-old boy. Examinations to clarify the cause of his dwarfism and bilateral testicular masses revealed 21-hydroxylase deficiency. The testes were not tender and were firm and nodular on palpation. The serum levels of adrenocorticotrophic hormone (ACTH), 17 alpha-hydroxyprogesterone (17-alpha-OHP), testosterone, and aldosterone were found to be elevated. Under corticosteroid therapy the serum marker abnormalities were corrected and there was gradual regression of the tumor lesions in both testes. Testicular tumors with adrenogenital syndrome are typically bilateral and develop in untreated or inadequately treated males with AGS.
Adolescent↗
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↗
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↗
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↗
[Treatment of male adrenogenital syndrome (report of 17 cases)].
OBJECTIVE: To discuss the treatment of male adrenogenital syndrome. METHODS: The clinical data of 17 patients with male adrenogenital syndrome, including 15 cases of congenital adrenal hyperplasia (CAH) and 2 cases of adrenocortical tumors, were analyzed retrospectively. The patients with 21-hydroxylase deficiency (21-OHD) and 11beta-hydroxylase deficiency (11beta-OHD) were treated with adrenocortical hormone, those with 17-hydroxylase deficiency (17-OHD) received sexual glands excision and estrogen besides adrenocortical hormone, and those with adrenocortical tumors underwent surgical removal. RESULTS: Sexual precocity symptoms disappeared and abnormal laboratory results returned to normal in 5 of the 21-OHD patients, who adhered to hormone treatment, and height growth was improved in the other 2, who received the medicine at an early age. The testicular adrenal rest (TAR) tumor was reduced dramatically in 1 case of 21-OHD after treatment. A left TAR found in another 21-OHD patient who discontinued the hormone therapy became softened after the resumption. Sperm could be seen in the semen of 3 21-OHD patients, but in small quantity and of poor quality. One 11beta-OHD patient with sexual precocity symptoms and hypertension became normal after the hormone treatment, and six 17-OHD patients maintained their female sexuality after the hormone treatment and operation. No relapse was found after resection of the adrenocortical tumors. CONCLUSION: Adrenocortical hormone therapy helps improve the height growth and testicular function of CAH patients, and surgical removal is necessary for adrenocortical tumors.
Adolescent↗
[Present state of diagnosis and treatment of the adrenogenital syndrome (author's transl)].
The adrenogenital syndrome (AGS; congenital adrenal hyperplasia [CAH]) is caused by a congenital defect in biosynthesis of cortisol. It is transmitted by the autosomal recessiv mode of inheritance. Its frequency in Central Europe is about 1:5000 live births, which means two to three times more frequent than phenylketonuria. The following enzyme deficiencies have been described so far: 21-kydroxylase (mild and severe type), 11-hydroxylase, 3-beta-hydroxysteroiddehydrogenase, 17-alpha-hydroxylase, cholesterol desmolase, 18-hydroxylase, 18-dehydrogenase. The clinical symptoms of AGS consist of signs of virilism in girls and macrogenitosomia praecox in boys. In addition, life threatening salt losing crises occur in patients with the severe form of 21-hydroxylase deficiency and the rare cases of 3-beta-hydroxysteroiddehydrogenase and 18-hydroxylase deficiency. The diagnosis should be made as early as possible by a thorough clinical examinations revealing signs of virisism and by the determination of elevated concentrations of androgens in plasma and urine. The therapy consists of substitution of cortisol (hydrocortisone) in the doses of 25--40 mg per m2 body surface per day. If synthetic derivatives are used glucocorticoid equivalent doses must be considered. Regular, short-term follow-ups on outpatient basis are necessary in order to monitor proper growth, bone age development and urinary steroid excretion. On this supposition almost normal growth and development can be achieved in children with AGS. Girls may become fertile following additional corrective surgery. Only in patients with the salt losing form of AGS normal growth appears to be limited despite optimal medical supervision.
Adrenal Hyperplasia, Congenital↗
[Adrenogenital syndrome. II. Molecular biology].
The adrenogenital syndrome (AGS) is usually caused by steroid 21-hydroxylase deficiency. Two steroid 21-hydroxylase genes are present within the major histocompatibility complex (MHC) on chromosome 6: an active gene (CYP21) and a pseudogene (CYP21P). Several types of mutations have been described; these mutations can be categorized as gene deletions, gene duplications, gene conversions and smaller mutations inside the gene. Some of these cause a defect in the CYP21 gene, possibly resulting in 21-hydroxylase deficiency. Apart from the intrinsic scientific value of these results, the methods applied become increasingly important in diagnostics.
Adrenal Hyperplasia, Congenital↗
[Unilateral testicular tumor in adrenogenital syndrome].
In male patients with congenital adrenogenital syndrome (AGS), in addition to the well known adrenal changes, tumor-like testicular proliferations may be observed. They have been known from literature since decades, but have become rare due to modern therapy. Especially in the mild and inapparent cases of AGS, the "tumors" cause clinical and morphological problems. The case of a 34 year old male AGS patient is presented, who underwent resection of a large adrenal cortical adenoma at age 28. Six years later, orchiectomy followed because of a testicular tumor. In frozen sections, the "Leydig cell-like" tumor caused diagnostic difficulties. After usual embedding and examination, the diagnosis of testicular "tumor" in AGS was confirmed. By review of the literature, pathomorphogenesis and morphology of these testicular tumors as well as possible histogenesis of their cells are discussed. Because of the close similarity to Leydig cell tumors, this most important differential diagnosis is especially considered. As a rule, testicular tumors in AGS are no indication for orchiectomy.
Adrenal Hyperplasia, Congenital↗
Long-term steroid therapy in patients with adrenogenital syndrome.
Fifteen years' experience with the adrenogenital syndrome at Duke University Medical Center is reviewed. Twenty-six patients were diagnosed before age 2. Of these, 20 had the salt-losing syndrome. The complications encountered and the results obtained in terms of growth, developemnt, and fertility are discussed. Delay in diagnosis and inappropriate gender assignment continue to be a problem.
17-Ketosteroids↗
[Functional morphology of the adrenal cortex and incretory kidney structures in the salt-losing form of adrenogenital syndrome in children].
The adrenals and kidney incretory structures (the juxtaglomerular apparatuses and renomedullary interstitial cells) were studied in 12 cases of a desalinization form of the adrenogenital syndrome in children who died at the age of 1-6 mos of acute water-electrolytic disturbances in order to assess function of the structures involved in the regulation of the water-salt equilibrium. The adrenals and kidneys from 7 children of the same age who died of mechanical asphyxia, were taken as controls. The depth of adrenocortical zones, volumes of nuclei and nucleoli in different cortical zones were determined; the juxtaglomerular index, cell count (including vacuolized cells), the area of the juxtaglomerular apparatus and mesangium were determined in the juxtaglomerular apparatus. The amount of cell lipid granules (the interstitial-cellular index), the mean granule volume and the total granule volume were counted in renomedullary interstitial cells. The results were statistically processed, and a paired correlation analysis of all the studied parameters was performed. In the desalinization form of the adrenogenital syndrome morphometric investigation of the glomerular and fascicular zones revealed compensatory processes, not of hyperplastic nature but mainly of hypertrophic nature; morphological and morphometric characteristics of the kidney incretory structures indicated tension of the renin-angiotensin system and probably a decrease in prostaglandin synthesis in salt and water loss. In the control group parameters of structures related to the regulation of the water-salt equilibrium, especially in the adrenal cortex, showed good correlation. In the desalinization form of the adrenogenital syndrome some other relationships between these structures developed.
Adrenal Cortex↗
Clitoral sensitivity after surgical correction in women with adrenogenital syndrome: a long term follow-up.
Surgical reduction of hypertrophy of the clitoris in early childhood, as well as vaginal reconstruction or vaginoplasty during the early teens, is required in girls with adrenogenital syndrome. In eight women (age >17 years) with adrenogenital syndrome, the sensitivity of the surgically reduced clitoris was evaluated by examination of vibration and light touch sensitivity, more than one year after vaginoplasty. When they were compared with a group of women who had not been operated on, the sensitivity to vibration and light touch were similar if the clitoris had been reduced as a one-stage procedure. In one woman who had had a second reduction, sensitivity was impaired. All women reported that the vaginal reconstruction was successful as far as sexual activity was concerned. Six of the eight had stable relationships with boyfriends or husbands. No pregnancies or children were reported.
Adolescent↗
The testicular "tumor" of the adrenogenital syndrome. A report of six cases and review of the literature on testicular masses in patients with adrenocortical disorders.
The clinical and pathological features of 40 cases in which testicular masses developed in patients with the adrenogenital syndrome are reviewed; this study was based on six personally observed cases and 34 other cases in the literature. The adrenal disorder was of the salt-losing form in two-thirds of the cases and the non-salt-losing form in the other third. Although the clinical diagnosis of the adrenogenital syndrome had been established prior to the discovery of the testicular lesion in most of the patients, in 18% of them the diagnosis was not made until or after the development of a testicular mass. Two-thirds of the masses were palpable (up to 10 cm); these cases were usually discovered in early adult life (average, 22.5 years). The remaining one-third were small (under 2 cm) and were usually found in children either at autopsy or on testicular biopsy. Eighty-three percent of the masses were bilateral. Eighty-six percent of the small lesions were located in the hilus. The larger lesions involved the testicular parenchyma in all but one case. They formed well-demarcated but unencapsulated brown-green masses, typically separated into lobules by prominent bands of fibrous tissue. Microscopical examination revealed sheets, nests, and (rarely) cords of cells with abundant eosinophilic cytoplasm separated by bands of fibrous tissue. Lipochrome pigment was identified in the cytoplasm in many cases, but crystals of Reinke were uniformly absent. The major pathological differential diagnosis is Leydig cell tumor; the associated clinical and laboratory features--including the high frequency of bilaterality and a decrease in the size of the tumor with corticosteroid therapy--are diagnostic of a testicular "tumor" of the adrenogenital syndrome. Although a variety of origins have been suggested for these lesions, in our opinion an origin from hilar pluripotential cells, which proliferate as a result of the elevated level of adrenocorticotropic hormone, is most likely.
Adrenal Hyperplasia, Congenital↗
[Molecular biology of the adrenogenital syndrome. New possibilities of heterozygote screening].
The adrenogenital syndrome is one of the most frequent metabolic diseases. This disorder of adrenal biosynthesis can now be classified unequivocally on the basis of molecular biological techniques. In its classical form, this disease is characterized by loss of the gene region which codes for adrenal 21-hydroxylase. The techniques of gene analysis enable unequivocal identification of carriers of heterozygotic and homozygotic features and hence affords the basis for a rational concept for therapy of this disease.
Adrenal Hyperplasia, Congenital↗
[Adrenogenital syndrome. I. Introduction, enzymology and heredity].
The adrenogenital syndrome (AGS) is a relatively common inherited metabolic disease, generally caused by a deficiency of the adrenocortical enzyme steroid 21-hydroxylase. This results in an insufficient biosynthesis of several important steroid hormones such as cortisol and aldosterone, and, on the other hand, in a strongly increased production of androgens (testosterone). In girls, virilization of the external genitals is usually seen. In some patients, severe salt loss occurs shortly after birth, and a life-threatening crisis may develop. Mild variants of the disease have also been described. Steroid 21-hydroxylase is encoded by a gene within the HLA complex on the short arm of chromosome 6. HLA typing thus allows the study of the hereditary transmission of several forms of the AGS. In addition, molecular biology at present opens new perspectives to fundamental and clinical genetic research.
Adrenal Hyperplasia, Congenital↗
[The untreated congenital adrenogenital syndrome on the light of modern diagnosis and individualized treatment (author's transl)].
A case of untreated adrenogenital syndrome in a 19 year old patient is described. The patient refused treatment and a name and sex change was effected in the registry following psychiatric consultation. The clinical, genetic and psychological problems of the adrenogenital syndrome are discussed. The importance of early diagnosis and treatment are again emphasized.
Adrenal Hyperplasia, Congenital↗
The ADRENOGENITAL syndrome.
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Adrenal Hyperplasia, Congenital↗
The diagnosis of the adrenogenital syndrome.
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Adrenogenital Syndrome↗