Gonadal dysfunction in adult men with congenital adrenal hyperplasia

1980 ◽  
Vol 95 (2) ◽  
pp. 185-193 ◽  
Author(s):  
G. W. Moore ◽  
A. Lacroix ◽  
D. Rabin ◽  
T. J. McKenna
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adult Males ◽  
Adrenal Hyperplasia ◽  
Adrenal Androgen ◽  
Hydroxylase Deficiency ◽  
Cell Hyperplasia ◽  
Gonadal Dysfunction ◽  
Dexamethasone Therapy ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency

Abstract. Two adult males are described with congenital adrenal hyperplasia (21-hydroxylase deficiency). Patient 1 was receiving therapy with cortisone acetate and presented with clinical features of glucocorticoid excess and uncontrolled adrenal androgen activity. It was established that the short-acting steroid which the patient was receiving was cleared so rapidly that endogenous ACTH secretion was not inhibited. Patient 2 presented with enlarged and painful testes in association with poor compliance with corticosteroid therapy. The histologic picture of the testis was compatible with 'Leydig cell hyperplasia'. However, successful response to dexamethasone therapy suggests that the testes harboured an adrenal rest. These observations highlight the need for careful follow-up and treatment of adult male patients with congenital adrenal hyperplasia.

scholarly journals Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2007 ◽  
Vol 157 (3) ◽  
pp. 339-344 ◽  
Author(s):  
Hedi L Claahsen-van der Grinten ◽  
Fred C G J Sweep ◽  
Johan G Blickman ◽  
Ad R M M Hermus ◽  
Barto J Otten
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Tumour Size ◽  
Inhibin B ◽  
Seminiferous Tubules ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Gonadal Dysfunction ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency ◽  
Testicular Adrenal Rest

Objective: Testicular adrenal rest tumours (TART) are a well-known complication in adult male patients with congenital adrenal hyperplasia (CAH), with a reported prevalence of up to 94%. In adulthood, the tumours are associated with gonadal dysfunction most probably due to longstanding obstruction of the seminiferous tubules. The aim of our study was to determine the presence of TART and their influence on gonadal function in childhood. Design: Retrospective study. Patients and methods: Scrotal ultrasound was performed in 34 children with CAH due to 21-hydroxylase deficiency who were between 2 and 18 years old. FSH, LH, testosterone and inhibin B concentrations were measured in serum of 27 patients. Results: TART were detected by ultrasound in 8 out of 34 (24%) children. In two of them, bilateral tumours were found. All lesions were located in the rete testis. Seven patients had the salt-wasting type of CAH; one patient had the simple virilising type of CAH. Mean tumour size was 4.1 mm (range 2–8 mm). In none of the patients were the tumours palpable. Two children with TART were between 5 and 10 years old, the other six children were above 10 years old. In all children with TART, LH, FSH, testosterone and inhibin B levels were similar to the patients without TART. Conclusion: TART can be found in CAH children before the age of 10 years. The absence of gonadal dysfunction in our group of children suggests that gonadal dysfunction as frequently reported in adult CAH patients with TART develops after childhood.

11C-Metomidate PET/CT Detected Multiple Ectopic Adrenal Rest Tumors in a Woman With Congenital Adrenal Hyperplasia

2020 ◽  
Author(s):  
Pia Burman ◽  
Henrik Falhammar ◽  
Erik Waldenström ◽  
Anders Sundin ◽  
Ulrika Bitzén
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Vena Cava ◽  
Serum Testosterone ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
18Fdg Pet ◽  
Pet Ct ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency

Abstract Context Women with congenital adrenal hyperplasia (CAH) may present with androgen excess that is difficult to control with conventional suppressive doses of glucocorticoids. Clinical management is challenging, and the woman is at great risk of developing steroid-induced complications. Patients and Methods A 32-year-old woman with salt-wasting CAH due to 21-hydroxylase deficiency underwent right-sided adrenalectomy because of a large myelolipoma. Over the years, androgens became increasingly difficult to suppress on prednisolone 5 + 0 + 2.5 mg daily, and at age 39 years the left adrenal with an enlarging myelolipoma was removed. A month later serum testosterone levels had increased from 4.1 preoperatively to 18.3 nmol/L (reference 0.2-1.8 nmol/L), and adrenocorticotropin levels from 32 to 283 pmol/L (reference < 14 pmol/L). No adrenal parenchyma was visualized on computed tomography (CT). In the further search for the source of the markedly elevated testosterone, positron emission tomography (PET) was performed with 2 different tracers, 18fluorodeoxyglucose (18FDG) reflecting glucose metabolism and 11C-metomidate, an inhibitor of 11-β-hydroxylase targeting adrenocortical tissue. Results 18FDG-PET/CT with cosyntropin stimulation showed ovarian/paraovarian hypermetabolism, suggestive of adrenal rest tumors. Further characterization with 11C-metomidate PET/CT showed uptakes localized to the ovaries/adnexa, behind the spleen, and between the right crus diaphragmaticus and inferior vena cava. Conclusion Adrenal rest tumors can give rise to high androgen levels in spite of suppressive supraphysiological glucocorticoid doses. This case illustrates, for the first time, the value of 11C-metomidate PET as a sensitive method in documenting adrenal rest tumors, currently considered rare in women with CAH.

scholarly journals Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

2012 ◽  
Vol 166 (3) ◽  
pp. 441-449 ◽  
Author(s):  
Henrik Falhammar ◽  
Helena Filipsson Nyström ◽  
Urban Ekström ◽  
Seth Granberg ◽  
Anna Wedell ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Fat Mass ◽  
Sperm Concentration ◽  
Inhibin B ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency ◽  
Testicular Adrenal Rest

ObjectiveFertility in males with congenital adrenal hyperplasia (CAH) is reported from normal to severely impaired. Therefore, we investigated fertility/fecundity, social/sexual situation, and pituitary–gonadal function in CAH males.Subjects and methodsThe patient cohort comprised 30 males, aged 19–67 years, with 21-hydroxylase deficiency. Their fertility was compared with age-matched national population data. For the evaluation of social/sexual factors and hormone status, age-matched controls were recruited (n=32). Subgroups of different ages (<30 years and older) and CYP21A2 genotypes (null (severe salt-wasting (SW)), I2splice (milder SW), and I172N (simple virilizing)) were also studied. Patients underwent testicular ultrasound examination (n=21) and semen analysis (n=14).ResultsFertility was impaired in CAH males compared with national data (0.9±1.3 vs 1.8±0.5 children/father, P<0.001). There were no major differences in social and sexual factors between patients and controls apart from more fecundity problems, particularly in the I172N group. The patients had lower testosterone/estradiol (E2) ratio and inhibin B, and higher FSH. The semen samples were pathological in 43% (6/14) of patients and sperm concentration correlated with inhibin B and FSH. Testicular adrenal rest tumors (TARTs) were found in 86% (18/21). Functional testicular volume correlated positively with the testosterone/E2 ratio, sperm concentration, and inhibin B. Patients with pathological semen had increased fat mass and indications of increased cardiometabolic risk.ConclusionsFertility/fecundity was impaired in CAH males. The frequent occurrence of TARTs resulting in testicular insufficiency appears to be the major cause, but other factors such as elevated fat mass may contribute to a low semen quality.

Adrenocortical Tumor in a Patient with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

PEDIATRICS ◽  
1981 ◽  
Vol 68 (2) ◽  
pp. 242-246
Author(s):  
Songja Pang ◽  
Dorothy Becker ◽  
James Cotelingam ◽  
Thomas P. Foley ◽  
Allan L. Drash
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
High Dose ◽  
Base Line ◽  
Cortical Tissue ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Serum Progesterone ◽  
High Dose Dexamethasone ◽  
Dexamethasone Therapy ◽  
21 Hydroxylase Deficiency

An adrenal cortical tissue tumor developed in a patient with poorly controlled salt-losing congenital adrenal hyperplasia. A 16-year-old girl became progressively virilized from 13 to 16 years of age. Base line serum progesterone, 17-hydroxyprogesterone, and testosterone levels were high and there was a diurnal pattern of the hormones. Initially elevated urinary 17-ketosteroid and serum steroid levels were decreased by high dose dexamethasone therapy, and at laparotomy an adenoma was found in the cortex of the hyperplastic left adrenal gland. It is inferred that persistent adrenocorticotropic hormone stimulation may result in neoplastic transformation of hyperplastic adrenal cortical tissue in patients with congenital adrenal hyperplasia.

scholarly journals Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review

2011 ◽  
Vol 129 (5) ◽  
pp. 346-351 ◽  
Author(s):  
Giovanni Scala Marchini ◽  
Marcello Cocuzza ◽  
Rodrigo Pagani ◽  
Fábio César Torricelli ◽  
Jorge Hallak ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Tumor Resection ◽  
Testicular Tumor ◽  
Seminiferous Tubules ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency ◽  
Testicular Adrenal Rest

CONTEXT: Synthesis of cortisol and aldosterone is impaired in patients with congenital adrenal hyperplasia (CAH) because of 21-hydroxylase deficiency. Men with CAH have low fertility rates compared with the normal population, and this is related to testicular adrenal rest tumors. Findings of azoospermia in combination with a testicular tumor on ultrasound are likely to have a mechanical cause, especially when in the testicular mediastinum. The preferred treatment method consists of intensive corticoid therapy. However, when the tumor is unresponsive to steroid therapy, surgical treatment should be considered. CASE REPORT: We present the case of a male patient with CAH due to 21-hydroxylase deficiency who presented a testicular tumor and azoospermia. Treatment with low daily corticoid doses had previously been started by an endocrinologist, but after 12 months, no significant change in sperm count was found. Although the adrenocorticotrophic hormone and 17-hydroxyprogesterone levels returned to normal values, the follicle-stimulating hormone (FSH), luteinizing hormone and testosterone levels remained unchanged. Ultrasound examination confirmed that the testicles were small and heterogenous bilaterally, and revealed a mosaic area at the projection of the testis network bilaterally. Magnetic resonance imaging confirmed the finding. Testicular biopsy revealed the presence of preserved spermatogenesis and spermiogenesis in 20% of the seminiferous tubules in the right testicle. The patient underwent testis-sparing tumor resection. After 12 months of follow-up, there was no tumor recurrence but the patient still presented azoospermia and joined an intracytoplasmic sperm injection program.

scholarly journals Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2011 ◽  
Vol 164 (2) ◽  
pp. 285-293 ◽  
Author(s):  
Henrik Falhammar ◽  
Helena Filipsson Nyström ◽  
Anna Wedell ◽  
Marja Thorén
Keyword(s):  
Cardiovascular Risk ◽  
Congenital Adrenal Hyperplasia ◽  
Older Patients ◽  
Liver Function Tests ◽  
Oral Glucose ◽  
Adult Males ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Increased Risk ◽  
21 Hydroxylase Deficiency

ObjectiveLifelong glucocorticoid therapy in patients with congenital adrenal hyperplasia (CAH) or the disease per se may result in increased cardiovascular risk. We therefore investigated cardiovascular and metabolic risk profiles in adult CAH males.Subjects and methodsWe compared CAH males (n=30), 19–67 years old, with age- and sex-matched controls (n=32). Subgroups of different ages (<30 years or older) and CYP21A2 genotypes (null, I2splice, and I172N as the mildest mutation) were studied. Anthropometry, fat and lean mass measured by dual-energy X-ray absorptiometry, lipids, liver function tests, homocysteine, lipoprotein-(a), glucose and insulin during an oral glucose tolerance test (OGTT), urine albumin, adrenal hormones, and 24 h ambulatory blood pressure measurements were studied.ResultsCAH males were shorter. Waist/hip ratio and fat mass were higher in older patients and the I172N group. Heart rate was faster in older patients, the I2splice, and I172N groups. Insulin levels were increased during OGTT in all patients and in the I172N group. γ-glutamyl transpeptidase was increased in older patients and in the I172N group. Testosterone was lower in older patients. Homocysteine was lower in younger patients, which may be cardioprotective. The cardiovascular risk seemed higher with hydrocortisone/cortisone acetate than prednisolone. Urinary epinephrine was lower in all groups of patients except in I172N.ConclusionsIndications of increased risk were found in CAH males ≥30 years old and in the I172N group. In contrast, younger CAH males did not differ from age-matched controls. This is likely to reflect a better management in recent years.

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