{"id":4422399,"date":"2025-01-11T16:24:50","date_gmt":"2025-01-11T22:24:50","guid":{"rendered":"https:\/\/myendoconsult.com\/learn\/topics\/androgenital-syndromes\/"},"modified":"2025-01-12T18:00:32","modified_gmt":"2025-01-13T00:00:32","slug":"androgenital-syndromes","status":"publish","type":"oen_topic","link":"https:\/\/myendoconsult.com\/learn\/topics\/androgenital-syndromes\/","title":{"rendered":"Androgenital Syndromes"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">ADULT ANDROGENITAL (ADRENOGENITAL) SYNDROMES<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Definition<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Adult adrenogenital syndromes<\/strong>: Disorders associated with <strong>excess adrenal androgens<\/strong> in adults.<\/li>\n\n\n\n<li><strong>Causes<\/strong>:\n<ol class=\"wp-block-list\">\n<li><strong>Late-onset (nonclassic) <a href=\"https:\/\/myendoconsult.com\/learn\/topics\/congenital-adrenal-hyperplasia-cah\/\" data-wpil-monitor-id=\"174\">congenital adrenal hyperplasia<\/a> (CAH)<\/strong><\/li>\n\n\n\n<li><strong>Familial glucocorticoid resistance<\/strong><\/li>\n\n\n\n<li><strong><a href=\"https:\/\/myendoconsult.com\/learn\/topics\/cushing-syndrome\/\" data-wpil-monitor-id=\"175\">Cushing syndrome<\/a><\/strong> (ACTH-dependent)<\/li>\n\n\n\n<li><strong>Androgen-secreting adrenal neoplasms<\/strong><\/li>\n<\/ol>\n<\/li>\n\n\n\n<li><strong>Gender Differences<\/strong>:\n<ul class=\"wp-block-list\">\n<li>In men, adrenal androgen excess may be <strong>clinically silent<\/strong> (because gonadal testosterone dominates).<\/li>\n\n\n\n<li>In women, leads to <strong>masculinization<\/strong> (virilization), menstrual dysfunction.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">Clinical Features in Women<\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Hirsutism<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>Excessive male-pattern<\/strong> hair growth (cheeks, upper lip, chin, midline chest, male-type pubic hair pattern, etc.).<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Virilization<\/strong> (more severe androgen excess)\n<ul class=\"wp-block-list\">\n<li><strong>Musculature<\/strong>: Increased muscle bulk, loss of female body contours.<\/li>\n\n\n\n<li><strong>Voice<\/strong>: Deepening.<\/li>\n\n\n\n<li><strong>Breasts<\/strong>: Atrophy.<\/li>\n\n\n\n<li><strong>Clitoromegaly<\/strong>: Clitoris &gt;10 mm length or &gt;7 mm width = abnormal.<\/li>\n\n\n\n<li><strong>Scalp Hair<\/strong>: Temporal balding.<\/li>\n\n\n\n<li><strong>Androgenic Flush<\/strong>: Plethoric face, neck, upper chest.<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">LATE-ONSET (NONCLASSIC) CONGENITAL ADRENAL HYPERPLASIA<\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Pathophysiology<\/strong>\n<ul class=\"wp-block-list\">\n<li>Milder\/partial enzymatic blocks in steroidogenesis (3\u03b2-HSD, 21-hydroxylase, or 11\u03b2-hydroxylase).<\/li>\n\n\n\n<li>Present later in life with <strong>hirsutism<\/strong>, menstrual irregularities, \u00b1 mild virilization.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>3\u03b2-Hydroxysteroid Dehydrogenase (3\u03b2-HSD) Deficiency<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>Laboratory<\/strong>: \u2191DHEA-S, <strong>low androstenedione<\/strong>.<\/li>\n\n\n\n<li><strong>Cosyntropin test<\/strong>: Marked \u219117-hydroxypregnenolone &amp; DHEA, no \u219117-hydroxyprogesterone &amp; androstenedione.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>21-Hydroxylase Deficiency<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>Most common<\/strong> cause of CAH (90+%).<\/li>\n\n\n\n<li><strong>Laboratory<\/strong>: \u2191Progesterone, \u219117-hydroxyprogesterone, \u2191androstenedione (all rise further with <a href=\"https:\/\/myendoconsult.com\/learn\/acth-stimulation-test\/\" data-wpil-monitor-id=\"177\">ACTH stimulation<\/a>).<\/li>\n\n\n\n<li>Clinically presents with hirsutism, oligomenorrhea, \u00b1 mild virilization.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>11\u03b2-Hydroxylase Deficiency<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>Laboratory<\/strong>: \u219111-deoxycortisol, \u219111-deoxycorticosterone, \u2191DHEA, \u2191androstenedione.<\/li>\n\n\n\n<li>May have <strong>hypertension<\/strong>, hypokalemia (DOC\u2019s mineralocorticoid effect), androgen excess \u2192 hirsutism.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Treatment<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>Glucocorticoid<\/strong> replacement to suppress ACTH and reduce adrenal androgen production.<\/li>\n\n\n\n<li>Care to avoid iatrogenic <a href=\"https:\/\/myendoconsult.com\/learn\/what-is-cushings-syndrome\/\" data-wpil-monitor-id=\"176\">Cushing syndrome<\/a> from overtreatment.<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"3000\" height=\"2100\" src=\"https:\/\/myendoconsult.com\/learn\/wp-content\/uploads\/adrenal-steroidogenesis.png\" alt=\"\" class=\"wp-image-4422811\" srcset=\"https:\/\/myendoconsult.com\/learn\/wp-content\/uploads\/adrenal-steroidogenesis.png 3000w, https:\/\/myendoconsult.com\/learn\/wp-content\/uploads\/adrenal-steroidogenesis-300x210.png 300w, https:\/\/myendoconsult.com\/learn\/wp-content\/uploads\/adrenal-steroidogenesis-768x538.png 768w, https:\/\/myendoconsult.com\/learn\/wp-content\/uploads\/adrenal-steroidogenesis-1536x1075.png 1536w, https:\/\/myendoconsult.com\/learn\/wp-content\/uploads\/adrenal-steroidogenesis-2048x1434.png 2048w\" sizes=\"auto, (max-width: 3000px) 100vw, 3000px\" \/><figcaption class=\"wp-element-caption\">Adrenal Steroidogenesis Pathway<\/figcaption><\/figure>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">FAMILIAL GLUCOCORTICOID RESISTANCE<\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Pathophysiology<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>Mutations<\/strong> in the <strong>glucocorticoid receptor<\/strong> gene \u2192 decreased cortisol action \u2192 \u2191ACTH \u2192 bilateral adrenal hyperplasia \u2192 <strong>excess androgens<\/strong> &amp; <strong>mineralocorticoid-like<\/strong> steroids (11-deoxycorticosterone).<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Clinical<\/strong>\n<ul class=\"wp-block-list\">\n<li>Similar to partial 11\u03b2-hydroxylase deficiency: <strong>androgen excess<\/strong> plus <strong>HTN, hypokalemia<\/strong>.<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">ACTH-DEPENDENT CUSHING SYNDROME<\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Mechanism<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>High ACTH<\/strong> \u2192 adrenal hyperplasia \u2192 overproduction of cortisol <strong>and<\/strong> adrenal androgens.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Clinical<\/strong>\n<ul class=\"wp-block-list\">\n<li>Women: Combined features of <strong>Cushing\u2019s<\/strong> (central obesity, striae, etc.) plus <strong>hirsutism\/virilization<\/strong>.<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">ANDROGEN-SECRETING ADRENAL NEOPLASMS<\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Incidence<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>Rare<\/strong>. More frequent in <strong>adrenocortical carcinoma<\/strong> than benign adenoma.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hormonal Output<\/strong>\n<ul class=\"wp-block-list\">\n<li>Typically <strong>DHEA<\/strong>, often androstenedione or testosterone.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Imaging<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>Carcinomas<\/strong>: Usually large (&gt;4 cm), inhomogeneous, high CT density.<\/li>\n\n\n\n<li><strong>Adenomas<\/strong>: Small (&lt;3 cm), homogeneous, lower CT density.<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">THE BIOLOGIC ACTIONS OF ADRENAL ANDROGENS<\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Major Adrenal Androgens<\/strong>: DHEA, DHEA-S, androstenedione, testosterone.\n<ul class=\"wp-block-list\">\n<li><strong>Women<\/strong>: Adrenal androgens are the <strong>primary source<\/strong> of androgens.<\/li>\n\n\n\n<li><strong>Men<\/strong>: Testicular testosterone usually dominates.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Physiologic Roles<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>Anabolic effects<\/strong> \u2192 muscle mass increase.<\/li>\n\n\n\n<li><strong>Male secondary sex traits<\/strong> (facial hair, deep voice, etc.).<\/li>\n\n\n\n<li>In <strong>women<\/strong>, adrenal androgens are crucial for <strong>axillary\/pubic hair<\/strong>; deficiency leads to hair loss in these areas.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Adrenarche<\/strong> vs. <strong>Pubarche<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>Adrenarche<\/strong>: Biochemical event, \u2191adrenal androgens at ~6\u20138 yrs.<\/li>\n\n\n\n<li><strong>Pubarche<\/strong>: Phenotypic event, sexual hair growth in pubic &amp; axillary areas.<\/li>\n\n\n\n<li><strong>Premature<\/strong>: Pubarche &lt;8 yrs in girls, &lt;9 yrs in boys = advanced hair growth, possibly advanced <a href=\"https:\/\/myendoconsult.com\/learn\/bone-age-assessment\/\" data-wpil-monitor-id=\"178\">bone age<\/a>.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Conversion and Metabolism<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>DHEA-S<\/strong> acts as a large reservoir \u2192 converted to <strong>DHEA<\/strong> \u2192 <strong>androstenedione<\/strong> \u2192 <strong>testosterone or estradiol<\/strong> in peripheral tissues.<\/li>\n\n\n\n<li>Possibly a <strong>neurosteroid<\/strong> role in brain, though no definitive DHEA receptor identified.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/myendoconsult.com\/learn\/anabolic-steroids-vs-testosterone\/\" data-wpil-monitor-id=\"179\">Anabolic Steroid<\/a> Use in Athletes<\/strong>\n<ul class=\"wp-block-list\">\n<li>Often used illicitly to <strong>increase muscle mass<\/strong>, enhance performance.<\/li>\n\n\n\n<li>Negative effects: testicular suppression (\u2193fertility), gynecomastia, liver damage, mood disorders (\u201croid rage\u201d), dyslipidemia, virilization in women, stunted growth in adolescents.<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"<p>ADULT ANDROGENITAL (ADRENOGENITAL) SYNDROMES Definition Clinical Features in Women LATE-ONSET (NONCLASSIC) CONGENITAL ADRENAL HYPERPLASIA FAMILIAL GLUCOCORTICOID RESISTANCE ACTH-DEPENDENT CUSHING SYNDROME ANDROGEN-SECRETING ADRENAL NEOPLASMS THE BIOLOGIC ACTIONS OF ADRENAL ANDROGENS<\/p>\n","protected":false},"featured_media":0,"template":"","oen_topic_chapter":[684],"class_list":["post-4422399","oen_topic","type-oen_topic","status-publish","hentry","oen_topic_chapter-adrenal-gland","post-wrapper","thrv_wrapper"],"_links":{"self":[{"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/oen_topic\/4422399","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/oen_topic"}],"about":[{"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/types\/oen_topic"}],"version-history":[{"count":4,"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/oen_topic\/4422399\/revisions"}],"predecessor-version":[{"id":4422812,"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/oen_topic\/4422399\/revisions\/4422812"}],"wp:attachment":[{"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/media?parent=4422399"}],"wp:term":[{"taxonomy":"oen_topic_chapter","embeddable":true,"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/oen_topic_chapter?post=4422399"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}