There has been a recent increase in the number of Operators presenting to clinics for evaluation of possible low testosterone. In response, USASOC recently released an Androgen Deficiency Clinical Practice Guideline (CPG) to help guide providers through the initial evaluation and treatment of patients. The diagnosis of hypogonadism is based on consistent signs and symptoms of androgen deficiency and unequivocally low serum testosterone (below 300 ng/dL). Testosterone levels can change for a variety of reasons and an adequate evaluation requires multiple laboratory tests over a period of time. If a diagnosis of hypogonadism is confirmed, differentiating between primary and secondary hypogonadism can help guide further care. Testosterone replacement therapy options are available, but careful monitoring for side-effects is required. Controversy still exists surrounding the safety of testosterone replacement therapy, and referral to endocrinology should strongly be considered before initiating treatment.
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http://dx.doi.org/10.55460/6I4W-SPUY | DOI Listing |
Cureus
December 2024
Central Research Service, Bharati Vidyapeeth (Deemed to be University) Medical College, Pune, IND.
Introduction Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder primarily caused by 21-hydroxylase enzyme deficiency, impairing cortisol synthesis and resulting in elevated androgen levels. CAH presents in two classical forms: salt-wasting (SW) and simple virilizing (SV). Although CAH is rare in India, regional variations and the absence of a national newborn screening (NBS) program pose significant challenges to accurate diagnosis.
View Article and Find Full Text PDFJCEM Case Rep
February 2025
Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the gene (c.779C > T/p.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Division of Pediatric Endocrinology, Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that manifests clinically in varying forms depending on the degree of enzyme deficiency. CAH is most commonly caused by 21-hydroxylase deficiency (21OHD) due to mutations in the CYP21A2 gene. Whereas there is a spectrum of disease severity, 21OHD is generally categorized into 3 forms.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.
Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in severe cortisol and aldosterone deficiency, leading to persistent adrenal stimulation and excess production of ACTH and adrenal androgens. This review examines the clinical considerations and challenges of balancing under- and overtreatment with glucocorticoids in adolescent and adult male individuals with CAH. Adolescents face many unique challenges that can hinder adherence, hormonal control, and transition to independence.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Department of Women's and Children's Health, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a rare genetic condition that results in cortisol deficiency and excess production of adrenal androgens. While the introduction of newborn screening for CAH has reduced morbidity and mortality, management of CAH remains challenging. Lifelong treatment with glucocorticoids is required to replace the endogenous cortisol deficiency and reduce excess adrenal androgens.
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