Figure 3 - uploaded by Jorge Elias Junior
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Adrenal glands in three different patients with congenital adrenal hyperplasia (CAH). Enlarged adrenal glands (arrows) can be seen on computed tomography (A) and magnetic resonance imaging (B), in different patients. On " A " , the left adrenal gland had nodular margins (dashed arrow). On " B " the left adrenal gland (dashed arrow) is larger than the right adrenal gland, which was within normal limits. Another adult patient with abdominal pain in which ultrasonography (not shown) depicted an adrenal mass. Computed tomography (C) and magnetic resonance imaging (D-E) showed a right adrenal myelolipoma (circles). CAH was confirmed posteriorly. Axial contrast-enhanced computed tomography (A); coronal T1-weighted magnetic resonance imaging (B); axial computed tomography (C) and T1-in-phase (D) and out-of-phase (E) magnetic resonance imaging.
Source publication
Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adr...
Citations
... Congenital adrenal hyperplasia is a rare autosomal recessive condition resulting due to enzymatic deficiency related to steroidogenesis [1]. With an incidence of 1 in 10,000 live births worldwide [1,2], more than 95 percent of cases are due to deficiency of 21 alpha hydroxylase, less being deficiency of 17 alpha hydroxylase and 11 beta hydroxylase [2]. Three phenotypic forms based on these deficiencies are categorized as classical salt wasting, classical simple virilizing and late onset non classical disease pattern [3]. ...
... Congenital adrenal hyperplasia is a rare autosomal recessive condition resulting due to enzymatic deficiency related to steroidogenesis [1]. With an incidence of 1 in 10,000 live births worldwide [1,2], more than 95 percent of cases are due to deficiency of 21 alpha hydroxylase, less being deficiency of 17 alpha hydroxylase and 11 beta hydroxylase [2]. Three phenotypic forms based on these deficiencies are categorized as classical salt wasting, classical simple virilizing and late onset non classical disease pattern [3]. ...
... Due to impaired cortisol production associated with absence of negative feedback mechanism of adrenocorticotropic hormone, its excess may lead to hyperplasia of bilateral adrenal glands [1,2,8] however not as profound as our patient had with demonstration of characteristic cerebriform pattern on ultrasound and homogenous symmetrical enlargement on contrast enhanced computed tomography. ...
... Though the most common diagnostic modality used for CAH is the demonstration of low levels of enzymes or products and high levels of precursors, radiology may be of assistance in diagnosing CAH and ruling out adrenal adenoma, especially when combined with clinical features. 9 We present a case of congenital adrenal hyperplasia with a history of hypertension and occasional per vaginal spotting. Although enzyme assay was not done due to resource constraints, the clinical and radiologic features are suggestive of the 17-alpha-hydroxylase deficiency type of CAH. ...
Congenital adrenal hyperplasia includes defects in the synthesis of steroid hormones in the adrenal cortex. The implications of this disorder manifest in other genitourinary organs, including ovaries and uterus. The diagnosis may be suspected based on the clinical and radiologic features.
... Adrenal gland enlargement was documented in 13 (81%) out of 16 children who underwent adrenal sonography. A study from Brazil also highlighted the importance of adrenal ultrasonography in the early detection and follow-up of patients with CAH [18]. ...
Objective:
To characterize the CYP21A2 gene mutations in children with classic congenital adrenal hyperplasia (CAH).
Methods:
A prospective, cross-sectional study was conducted on 24 children with classic CAH. Molecular characterization of the CYP21A2 gene was carried out by Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), or clinical exome sequencing. Another 21 previously mutation-proven CAH patients were also included and a combined result was drawn.
Results:
Out of 45 children, pathogenic variants in the CYP21A2 gene were identified in 43 patients (95.5%). Homozygous, probable compound heterozygous, and heterozygous variants were seen in 69%, 22%, and 18% of patients, respectively. The most common variant was c.293-13C/A>G (33%), followed by deletion/duplication (24%), and c.955C>T (p.Gln319Ter) (21%), similar to previous Indian studies. Allelic frequencies of c.332_339del and c.518 T>A (p.Ile173Asn) were 9% and 4%, respectively. Less common variants were c.923dupT (p.Leu308PhefsTer6), c.92C>T (p.Pro31Leu), c.1069C>T (p.Arg357Trp), c.1267G>C (p.Gly423Arg), and c.710_719delins (p.Ile237_Met240delinsAsnGluGluLys). A good genotype-phenotype correlation was observed; only p.Pro31Leu and p.Ile173Asn variants showed discordance. The diagnostic yield of Sanger sequencing alone, Sanger sequencing with MLPA, and clinical exome alone was 85%, 100%, and 100%, respectively.
Conclusions:
All children, except two, diagnosed clinically as classic CAH, showed pathogenic variants in the CYP21A2 gene; the most common variant was c.293-13 C/A>G. The results suggest a broad mutation spectrum in the authors' single-center cohort of children with CAH. Clinical exome sequencing is the preferred stand-alone method for molecular diagnosis of CAH.
... We strongly suggested the need for performing prostate-specific antigen (PSA) dosage and prostate biopsy since prostate cancers were described in these patients, as well as the necessity to screen parents and his sisters for mutation detection. 4,5 Female patients with CAH having prostatic tissue found in the literature are described in Table 2. [6][7][8][9][10][11][12][13][14][15][16][17] To the best of our knowledge, this is the 20th reported case. ...
... 16 The size of both adrenal glands and tumors has been described to be significantly correlated with a poor hormonal control status, and it can regress with adequate treatment. 17 In our case, the long evolution of the disease without medications controlling hormonal parameters could explain the large size of the adrenal mass. ...
The presence of prostatic tissue, in addition to uterus and adrenal tumors, is possible in 46XX patients with CAH. Lesions of these organs are usually benign. However, complications including prostate and adrenal cancer were also reported.
... Several reports in the literature have described CT scans showing nodules that may regress with adequate therapy. Other adrenal lesions described in CAH include adenomas, myelolipomas and the typical pattern of diffuse enlargement with a heterogeneous enhancement [8]. ...
... Whether adrenal dysfunction is suspected clinically or detected incidentally, the assessment is guided in concert by clinical history, physical examination and serologic testing [11]. Radiologically detected adrenal hyperplasia is often clinically asymptomatic and ACTH-independent in majority of the cases [5]. ...
... ACTH-dependent CS represents approximately 80% of the endogenous causes, which include pituitary adenoma, ectopic ACTH secretion, and rarely tumors with ectopic CRH-production [16]. In ACTH-dependent CS or adrenal hyperplasia, pituitary MRI is often performed to assess for an ACTH-producing pituitary tumor, whereas adrenal imaging is typically used in ACTH-independent disease [11] as ACTH-independent hypercortisolism is of adrenocortical origin with the majority of cases resulting from adrenal adenoma (Table 1) [3]. ...
Adrenal hyperplasia is non-malignant enlargement of the adrenal glands, which is often bilateral. It can be incidental or related to indolent disease process and may be related to benign or malignant etiologies causing biochemical alterations in the hypothalamic–pituitary–adrenal axis which controls steroidogenesis and in particular cortisol production. Clinical significance of the adrenal hyperplasia is variable ranging from asymptomatic finding to serious manifestations of Cushing syndrome. This is often associated with anatomical changes in the adrenal glands, which typically manifests as diffuse and sometimes nodular enlargement of the adrenal glands radiologically. Approaching adrenal hyperplasia requires careful clinical and biochemical evaluation in correlation with imaging review to differentiate ACTH-dependent and ACTH-independent etiologies. CT is the primary modality of choice for adult adrenal imaging owing to reproducibility, temporal and spatial resolution and broader access, while MRI often serves a complimentary role. Ultrasound and MRI are most commonly used in pediatric cases to evaluate congenital adrenal hyperplasia. This article will discuss the clinical presentation and imaging features of different types and mimics of adrenal cortical hyperplasia.
... Congenital Adrenal Hyperplasia is an autosomal recessive disorder with 21-hydroxylase deficiency accounting for most cases. 1 Hydrocortisone is the treatment of choice in children but management of the adult patient remains controversial. 1 Few doctors are trained to manage adults with rare genetic conditions like CAH. 2 Adrenocortical tumors in CAH are not rare but are mostly benign. 3 This case report highlights the challenges in both physical and psychological management of an adult female with neglected CAH who has been raised as a male. ...
... It is believed to be due to chronic adrenocorticotropic hormone (ACTH) stimulation leading to adrenocortical cell metaplasia. 3 Reported prevalence rates of adrenocortical masses in homozygote patients are up to 83%. Adrenocortical masses may be bilateral or unilateral. ...
An apparently well 27-year-old phenotypically male adult was seen at the endocrine clinic for gender assignment. Patient had been raised as a male and identifies as such. Abdominal CT scan showed a unilateral left adrenal mass and karyotyping revealed 46 XX female karyotype. She was diagnosed to have simple virilizing CAH and needed thorough counselling with subsequent management by a multidisciplinary team.
... A thorough clinical evaluation is paramount in the workup of adrenal cortical hyperplasia and guides subsequent imaging workup, even if hyperplasia is detected incidentally. 6 For example, a history of diabetes, proximal muscle fatigue, moon facies and cutaneous striae suggests Cushing syndrome, which may prompt a biochemical evaluation to discern adrenocorticotropic hormone (ACTH)-dependent processes from ACTHindependent processes, by measuring serum ACTH levels. Findings of ACTH-dependent Cushing syndrome necessitate imaging of the pituitary gland as well as the adrenal glands, whereas ACTH-independent processes would typically limit the imaging to only the adrenal glands. ...
... Findings of ACTH-dependent Cushing syndrome necessitate imaging of the pituitary gland as well as the adrenal glands, whereas ACTH-independent processes would typically limit the imaging to only the adrenal glands. 6 Conversely, infants born with congenital adrenal hyperplasia (CAH) may present with adrenal insufficiency in the form of salt wasting in infancy, or varying degrees of virilization in infancy or later. These infants are evaluated with an adrenocortical biochemical profile, and possibly genetic testing, often followed by ultrasound of the adrenal glands. ...
Adrenal cortical hyperplasia manifests radiologically as the nonmalignant growth, or enlargement of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Controlled by the pituitary gland, the adrenal cortex drives critical processes, such as cortisol, mineralocorticoid, and sex hormone production. Any disruption in the multiple enzymes and hormones involved in these pathways may cause serious or life-threatening symptoms, often associated with anatomical changes of the adrenal glands. Diagnosis and treatment of adrenal cortical hyperplasia requires a thorough clinical evaluation. As imaging has become more robust, so has its role in the diagnosis and treatment of adrenal conditions. CT has been the primary modality for adrenal imaging due to reproducibility, temporal and spatial resolution and broad access. MRI serves a complimentary role in adrenal imaging and can be used to further evaluate indeterminate CT findings or serve as an adjunct tool without the use of ionizing radiation. Ultrasound and fluoroscopy (genitography) are most commonly used in children and fetuses to evaluate congenital adrenal hyperplasia. This article will discuss the clinical presentation, laboratory workup and imaging features of adrenal cortical hyperplasia, both congenital and acquired.
Some adrenal gland diseases may affect fertility, mainly when related to certain hormonal excesses, particularly in women. Although clinical and laboratory diagnoses play a main role in this setting, diagnostic imaging may contribute to the diagnosis, management, and follow-up of such diseases. The main purpose of this chapter is to review and illustrate the imaging findings of such diseases.
