Few studies on exist on the prevalence of testicular adrenal rest tumours (TARTs) in boys and adolescent males with congenital adrenal hyperplasia (CAH). Aycan and colleagues assessed the long-term treatment outcomes of this patient group in a cohort of sixty individuals. They found a TART prevalence of 18.3% from 4 years of age, which responded well to high-dose steroid treatment. They recommend ultrasound screening of CAH patients from a young age to prevent infertility in adulthood. Read the full article in Aycan and colleagues (2013) Clinical Endocrinology 78 667—672. DOI: 10.1111/cen.12033
Source: Society for Endocrinology - Category: Endocrinology Source Type: news

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Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by defects of adrenal steroidogenesis due to mutations in one of the following enzymes: 21-hydroxylase (21OH), 11β-hydroxylase (11βOH), 17α-hydroxylase (17OH; also known as 17, 20-lyase), 3β hydroxysteroid dehydrogenase type 2 (3βHSD2), steroidogenic acute regulatory protein (StAR), P450 cholesterol side-chain cleavage (P450scc), and P450 oxidoreductase (POR). More than 95% of congenital adrenal hyperplasia cases are due to mutations in CYP21A2, the gene encoding the adrenal steroid 21-hydroxylase enzyme...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Authors: Pignatelli D, Pereira SS, Pasquali R Abstract Congenital Adrenal Hyperplasias (CAH) are genetic diseases transmitted in an autosomal recessive way and these diseases affect many aspects of human health. The majority of CAH cases is due to a deficiency in 21-hydroxylase as a result of the existence of mutations in both alleles of the CYP21A2 gene. Since the identification of mild, non-classic forms of this disease, CAH has been recognized to be one of the most common genetic diseases in human beings. This disease is generally associated with elevated secretion of androgens, sometimes resulting in virilizing...
Source: Frontiers of Hormone Research - Category: Endocrinology Tags: Front Horm Res Source Type: research
The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients’ self-esteem. In the most severe cases life-threatening adrenal salt wasting crises may occur. Significant morbidity including the possibility of mistaken gender determination, precocious puberty, infertility and growth arrest with consequent short stature may also affect these patients. In the less severe cases milder symptoms like hirsutism will likely affect the image of t...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
ConclusionsDespite significant improvements over the last years in achieving fertility in female patients with SV CAH, it is highly dependent upon the severity of virilization and the metabolic control. The role of P30L mutation in infertility and unsuccessfully assisted reproduction remains to be elucidated.
Source: European Journal of Medical Research - Category: Research Source Type: research
Authors: Lin-Su K, Nimkarn S, New MI Abstract Hyperandrogenism in congenital adrenal hyperplasia (CAH) results from overstimulation of adrenocorticotropic-driven androgen production in the adrenal cortex due to lack of cortisol feedback. The classical form is characterized by more-severe symptoms of hyperandrogenism, including virilization of the female genitalia. The milder nonclassical form presents with postnatal symptoms of hyperandrogenism. Presenting symptoms in adulthood may include acne, male-pattern alopecia, hirsutism, irregular menses/amenorrhea or infertility. The goal of therapy in CAH is to both corre...
Source: Expert Review of Endocrinology and Metabolism - Category: Endocrinology Tags: Expert Rev Endocrinol Metab Source Type: research
ConclusionCongenital hyperplasia of the adrenal glands is a rare pathology in the context of male infertility. A semen analysis could be performed after puberty and a semen preservation may be proposed.
Source: Basic and Clinical Andrology - Category: Urology & Nephrology Source Type: research
Conclusion: This study showed that TART can occur in prepubertal patients and that disease control could be a factor associated with its development. Therefore, we suggest investigating TART development early in childhood, mainly in poorly controlled 21-OHD patients.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research
Abstract Deficiency of the 21-hydroxylase enzyme is the most common form of congenital adrenal hyperplasia (CAH), accounting for more than 95% of the cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, impaired bone mineral density, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and practitioners. In adulthood, the aims of the medic...
Source: Endocrine Development - Category: Endocrinology Authors: Tags: Endocr Dev Source Type: research
Kim et  al report interesting findings about testicular adrenal rest tumors (TARTs) in young males with congenital adrenal hyperplasia (CAH). They describe that TART, a well-known complication in males with CAH, can lead to gonadal dysfunction and infertility. Knowledge about age at presentation can be he lpful in deciding when to start screening to facilitate timely intervention. The study showed that TARTs were found in 5 of 35 screened patients (14%), of whom 1 was younger than 12 years old.
Source: The Journal of Urology - Category: Urology & Nephrology Authors: Tags: Letter to the Editor/Errata Source Type: research
Reduced fertility is a common potential problem among males with congenital adrenal hyperplasia (CAH), with nearly half experiencing impaired sperm production. The major cause of oligo/azoospermia in CAH is testicular adrenal rest tumors (TARTs). Studies indicate that ultrasound screening for TARTs should begin during childhood, yet it remains unclear whether boys with CAH are routinely screened for TARTs and/or counseled about infertility risk and potential interventions such as fertility testing and/or preservation.
Source: Journal of Pediatric Urology - Category: Urology & Nephrology Authors: Source Type: research
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