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خرید پکیج

تعداد آیتم قابل مشاهده باقیمانده : 3 مورد

Selected hereditary causes of gynecomastia

Selected hereditary causes of gynecomastia

Disease (gene)	Associated clinical features
Primary hypogonadism (hypergonadotropic)
Congenital adrenal hyperplasia	Autosomal recessive inheritance
3-beta hydroxysteroid dehydrogenase defect (HSD3B2)	Hypogonadism (atypical genitalia, undervirilization) Cortisol deficiency (fatigue, nausea, vomiting) Aldosterone deficiency (hypotension, volume depletion, hyperkalemia, metabolic acidosis)
17-alpha hydroxylase deficiency (CYP17A1)	Hypogonadism (atypical genitalia, absence of secondary sexual characteristics) Cortisol deficiency (fatigue, nausea, vomiting) Hypertension
Cytochrome P450 oxidoreductase deficiency (POR)	Severe undervirilization Cortisol deficiency (fatigue, nausea, vomiting)
Secondary hypogonadism (hypogonadotropic)
Isolated gonadotropin-releasing hormone deficiency, also known as idiopathic hypogonadotropic hypogonadism (FGFR1, KISS1, KISS1R, and others)	Autosomal dominant or recessive inheritance Hypogonadotropic hypogonadism
Kallmann syndrome 1 (KAL1)	X-linked inheritance Hypogonadotropic hypogonadism Anosmia/hyposmia
Increased aromatase
Aromatase excess syndrome (CYP19A1)	Autosomal dominant inheritance Prepubertal/peripubertal gynecomastia Accelerated early linear growth Testicular failure
Carney complex (PRKAR1A)	Autosomal dominant inheritance Prepubertal/peripubertal gynecomastia Multiple lentigines Atrial and mucocutaneous myxomas Blue nevi
Peutz-Jeghers syndrome (STK11)	Autosomal dominant inheritance Prepubertal gynecomastia Mucocutaneous pigmentation Multiple hamartomatous polyps in GI tract
Androgen receptor defect
Androgen insensitivity syndrome (AR)	X-linked inheritance Atypical genitalia Undervirilization
Spinal and bulbar muscular atrophy (AR [expanded CAG repeats])	X-linked inheritance Atypical genitalia Undervirilization Muscle fasciculations Weakness Calf hypertrophy

Adapted from: Narula HS, Carlson HE. Gynaecomastia—pathophysiology, diagnosis and treatment. Nat Rev Endocrinol 2014; 10:684.

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