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International Heart Journal 2024
Topics: Humans; Adrenal Hyperplasia, Congenital; Hyperplasia
PubMed: 38296561
DOI: 10.1536/ihj.23-647 -
Endocrinology and Metabolism Clinics of... Sep 2019Fertility rates in classic congenital adrenal hyperplasia caused by 21-hydroxylase deficiency are substantially decreased for various reasons, including hormonal,... (Review)
Review
Fertility rates in classic congenital adrenal hyperplasia caused by 21-hydroxylase deficiency are substantially decreased for various reasons, including hormonal, anatomic, psychosocial, and psychosexual causes. However, fecundity is comparable with the general population. Under optimal hormone replacement, the course and outcome of pregnancies is also good. This article summarizes successful gestational management, including preconceptional considerations, adjustment of hormone replacement during pregnancy, delivery and lactation, as well as the prevention of adrenal crises. In nonclassic 21-hydroxylase deficiency, preconceptional low-dose hydrocortisone replacement normalizes the otherwise increased miscarriage rate. Pregnancy reports in rarer forms of congenital adrenal hyperplasia are summarized as well.
Topics: Adrenal Hyperplasia, Congenital; Female; Fertility; Hormone Replacement Therapy; Humans; Hydrocortisone; Preconception Care; Pregnancy; Pregnancy Complications
PubMed: 31345527
DOI: 10.1016/j.ecl.2019.05.011 -
The Journal of Clinical Endocrinology... Jan 2022
Topics: 17-alpha-Hydroxyprogesterone; Adrenal Hyperplasia, Congenital; Androstenedione; Humans
PubMed: 34331764
DOI: 10.1210/clinem/dgab555 -
Annales D'endocrinologie Oct 2017Congenital adrenal hyperplasia is an autosomal recessive disease due to functional abnormalities of adrenal steroid enzymes. The most common form of the disease is due... (Review)
Review
Congenital adrenal hyperplasia is an autosomal recessive disease due to functional abnormalities of adrenal steroid enzymes. The most common form of the disease is due to a 21-hydroxylase deficiency. The classical forms (most severe) are characterized by a deficiency in cortisol and sometimes in aldosterone, which may compromise the vital prognosis of neonates, and by an increase in androgen synthesis, leading to the virilization of girls' external genitalia at birth, followed by clinical signs of hyperandrogenism during childhood and adolescence. Neonatal screening has improved management and reduced morbidity and mortality in the neonatal period, but its performance could be broadly optimised by adjusting the assay techniques or the biomarkers used. The genetic diagnosis is difficult owing to the large genetic heterogeneity of the 6p21.3 region, which contains the CYP21A2 gene, especially with respect to the use of new-generation techniques of sequencing. Prenatal diagnosis is now possible as early as 6 weeks of gestation, but prenatal treatment remains controversial, awaiting results from prospective cohorts evaluating its long-term impact. Since conventional therapies have limitations, new therapies are currently being developed to allow better control of androgen synthesis and a substitutive treatment that respects the physiological rhythm of cortisol secretion, which would limit the development of long-term complications.
Topics: Adrenal Hyperplasia, Congenital; Child; Diagnosis, Differential; Endocrinology; Female; Genetic Testing; Humans; Male; Pediatrics
PubMed: 29157486
DOI: 10.1016/S0003-4266(17)30922-8 -
Endocrine Jan 2018Adrenal myelolipoma is an invariably benign neoplasm of the adrenal gland that is the second most common primary adrenal incidentaloma following adrenocortical adenomas.... (Review)
Review
INTRODUCTION
Adrenal myelolipoma is an invariably benign neoplasm of the adrenal gland that is the second most common primary adrenal incidentaloma following adrenocortical adenomas. It is composed of elements of adipose tissue and extramedullary hematopoiesis. Hypotheses on stem cells and hormonal factors have been formulated regarding its pathogenesis that is still obscure. Despite its benign behavior, adrenal myelolipoma is clinically relevant as it might cause significant difficulties in the differential diagnosis of adrenal tumors.
METHODS
We have reviewed 420 cases reported between 1957 and 2017 on adrenal myelolipoma retrieved from PubMed and Scopus databases and also 20 of our case series to provide a comprehensive analysis of their pathology, epidemiological and clinical features.
RESULTS AND CONCLUSIONS
The average age for its diagnosis was 51 years, and no gender difference was observed. The average size of tumors was 10.2 cm. Congenital adrenal hyperplasia was associated to 10% of all cases analyzed, while other adrenal hypersecretory disorders (cortisol, aldosterone) were found in 7.5% of cases. Computed tomography and magnetic resonance imaging can be reliably used for its differential diagnosis. If the diagnosis of an adrenal myelolipoma is unambiguous, and no associated symptoms or hormonal activity are established, surgical intervention is usually not necessary.
Topics: Adipose Tissue; Adrenal Gland Neoplasms; Adrenal Glands; Adrenal Hyperplasia, Congenital; Diagnosis, Differential; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Myelolipoma; Tomography, X-Ray Computed
PubMed: 29164520
DOI: 10.1007/s12020-017-1473-4 -
Ugeskrift For Laeger Mar 2024Congenital adrenal hyperplasia (CAH) arises from genetic enzyme defects, often in CYP21A2, causing primary adrenal insufficiency. In this case report, a man in his late...
Congenital adrenal hyperplasia (CAH) arises from genetic enzyme defects, often in CYP21A2, causing primary adrenal insufficiency. In this case report, a man in his late 20s with lifelong CAH faced challenges in adhering to medication. Suboptimal treatment led to the development of testicular adrenal rest tumours, diagnosed by ultrasound, and hypogonadism. Enhanced adherence restored hormone levels, promoting eugonadism. Adherence plays a crucial role in diminishing tumour size and preventing complications, potentially necessitating orchiectomy in severe cases.
Topics: Humans; Male; Adrenal Hyperplasia, Congenital; Adrenal Rest Tumor; Hypogonadism; Steroid 21-Hydroxylase; Testicular Neoplasms; Adult
PubMed: 38533865
DOI: 10.61409/V12230794 -
Endocrinology and Metabolism Clinics of... Jun 2017Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single-gene defects in the various enzymes required for cortisol... (Review)
Review
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single-gene defects in the various enzymes required for cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with more than 95% of all cases caused by 21-hydroxylase deficiency. Genotyping is an important tool in confirming the diagnosis or carrier state, provides prognostic information on disease severity, and is essential for genetic counseling. In this article, the authors provide an in-depth discussion on the genetics of CAH, including genetic diagnosis, molecular analysis, genotype-phenotype relationships, and counseling of patients and their families.
Topics: Adrenal Hyperplasia, Congenital; Genotyping Techniques; Heterozygote; Humans
PubMed: 28476231
DOI: 10.1016/j.ecl.2017.01.008 -
Hormone Research in Paediatrics 2022The adrenal has played a major role in the history of pediatric endocrinology. Cases of congenital adrenal hyperplasia (CAH) were reported in the 19th century, leading... (Review)
Review
The adrenal has played a major role in the history of pediatric endocrinology. Cases of congenital adrenal hyperplasia (CAH) were reported in the 19th century, leading to the understanding that the adrenal influenced sexual phenotypes as well as being mysteriously required for survival. Numerous adrenal steroids were isolated in the early 20th century, and bioassays eventually distinguished glucocorticoids, mineralocorticoids, and androgens. Treatment of CAH with cortisone in 1950 by Wilkins and by Bartter and Albright revolutionized clinical endocrinology and launched a productive era of pediatric adrenal research. Through careful clinical studies, Wilkins established the contemporary approach to treating CAH. Alfred Bongiovanni identified defective 21-hydroxylation in CAH in 1957, followed by deficiencies of 3β-hydroxysteroid dehydrogenase and 11β-hydroxylase. P450 enzymes were described in 1962-1964, and 21-hydroxylation was the first activity ascribed to a P450. Accurate assays for 17OH-progesterone in newborns and in response to ACTH permitted the diagnosis of CAH in children and families. Application of the techniques of molecular genetics elucidated genetic and biochemical bases of these disorders from 1984 to 2004. Pediatric endocrinologists played central roles in identifying the genes responsible for both common and rare forms of congenital adrenal hyperplasia and determining their most appropriate treatments.
Topics: Humans; Adrenal Hyperplasia, Congenital; Mineralocorticoids; Endocrinology; Glucocorticoids; Androgens
PubMed: 36446323
DOI: 10.1159/000526468 -
Fertility and Sterility Jan 2019Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene, located on the short arm of chromosome 6. The two main... (Review)
Review
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene, located on the short arm of chromosome 6. The two main underlying mechanisms of CYP21A2 defects are large gene deletion and conversion. Anticipation of the phenotypes associated with different combinations of CYP21A2 mutations remains the most important determinant in prenatal diagnosis and counseling of the expectant couple who are determined to be at risk for congenital adrenal hyperplasia.
Topics: Adrenal Hyperplasia, Congenital; Female; Gene Deletion; Genotype; Humans; Mutation; Phenotype; Pregnancy; Steroid 21-Hydroxylase
PubMed: 30611409
DOI: 10.1016/j.fertnstert.2018.11.007 -
The British Journal of Radiology Nov 2017Adrenal cortical hyperplasia manifests radiologically as a non-malignant growth, or enlargement, of the adrenal glands, specifically the cortex, although the cortex... (Review)
Review
Adrenal cortical hyperplasia manifests radiologically as a non-malignant 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 the production of cortisol, mineralocorticoid and sex hormones. Any disruption in the multiple enzymes and hormones involved in these pathways may cause serious or life-threatening symptoms, often associated with anatomical changes in 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 owing 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 foetuses 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.
Topics: Adolescent; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Adult; Cushing Syndrome; Diagnosis, Differential; Female; Humans; Hyperplasia; Infant, Newborn; Magnetic Resonance Imaging; Male; Middle Aged; Organ Size; Pituitary ACTH Hypersecretion; Steroid 21-Hydroxylase; Tomography, X-Ray Computed
PubMed: 28707538
DOI: 10.1259/bjr.20170330