Overview
Definition:
Gynecomastia refers to the enlargement of male breast tissue
In pediatrics, it is crucial to distinguish between true gynecomastia (glandular proliferation) and pseudogynecomastia (adipose tissue accumulation, often associated with obesity).
Epidemiology:
Physiologic gynecomastia occurs in approximately 60-90% of adolescent males during puberty due to transient hormonal imbalances
True pathologic gynecomastia is less common
Obesity is a significant contributor to pseudogynecomastia, affecting a large proportion of overweight or obese children and adolescents.
Clinical Significance:
Accurate differentiation is vital to avoid unnecessary investigations and interventions for benign conditions like obesity-related pseudogynecomastia, while ensuring timely diagnosis and management of underlying pathologic causes of true gynecomastia, which can indicate serious endocrine or neoplastic conditions.
Clinical Presentation
Symptoms:
May be asymptomatic
Tenderness or pain in the breast tissue
Palpable rubbery or firm disc beneath the nipple-areola complex
Rapid onset of breast enlargement
History of medications or exposures
Symptoms suggestive of underlying endocrine disorder, such as delayed puberty or other signs of virilization or feminization.
Signs:
Bilateral or unilateral breast enlargement
Palpation reveals glandular tissue (firm, mobile disc) or adipose tissue (softer, diffuse)
Absence of nipple discharge
Absence of palpable masses in the breast parenchyma or axilla
Associated signs of obesity, such as increased BMI, or signs of specific endocrine disorders (e.g., hypospadias, cryptorchidism, ambiguous genitalia).
Diagnostic Criteria:
No universal diagnostic criteria exist for pediatric gynecomastia
Diagnosis relies on clinical examination distinguishing glandular tissue from adipose tissue
Elevated estrogen or depressed testosterone levels may support hormonal imbalance
Genetic testing may be indicated for suspected disorders of sex development.
Diagnostic Approach
History Taking:
Detailed birth and developmental history
Pubertal status (Tanner staging)
Family history of endocrine disorders or breast cancer
Detailed medication history, including over-the-counter drugs, herbal supplements, and recreational drug use
History of liver disease, renal disease, hyperthyroidism, or chronic illness
Exposure to endocrine disruptors
Presence of symptoms like testicular pain or changes, galactorrhea, or constitutional symptoms.
Physical Examination:
Comprehensive assessment of pubertal development (Tanner staging for genitalia and pubic hair)
Careful palpation of breast tissue to differentiate between glandular and adipose tissue
Measurement of testicular volume
Examination for other signs of endocrine dysfunction: thyroid, adrenal, or signs of Klinefelter syndrome (e.g., tall stature, eunuchoid habitus, small testes)
Assessment of body mass index (BMI) and distribution of adipose tissue.
Investigations:
Initial investigations are guided by clinical suspicion
For suspected true gynecomastia: Serum hormone levels including total testosterone, luteinizing hormone (LH), follicle-stimulating hormone (FSH), prolactin, estradiol, and dehydroepiandrosterone sulfate (DHEAS)
Consider human chorionic gonadotropin (hCG) if Leydig cell tumor is suspected
Thyroid function tests (TSH, free T4) if hyperthyroidism is suspected
Karyotype if Klinefelter syndrome or disorders of sex development are suspected
Liver and renal function tests if systemic disease is suspected
Imaging is generally not required for simple obesity-related pseudogynecomastia
Ultrasound may be useful to assess breast tissue composition if differentiation is unclear
Testicular ultrasound may be indicated if a testicular tumor is suspected.
Differential Diagnosis:
Obesity-related pseudogynecomastia (most common)
True gynecomastia due to pubertal delay or imbalance
Klinefelter syndrome (47,XXY)
Testicular tumors (Leydig cell tumors, seminomas)
Adrenal tumors (producing androgens or estrogens)
Medications (e.g., spironolactone, cimetidine, anabolic steroids, digoxin)
Liver disease
Hyperthyroidism
Hypogonadism
Certain rare genetic syndromes
Gynecomastia due to estrogen-producing tumors (rare in children).
Management
Initial Management:
For obesity-related pseudogynecomastia: Lifestyle modification is paramount
Focus on weight loss through diet and exercise
Reassurance is key
For pubertal gynecomastia: Reassurance and observation are usually sufficient as it often resolves spontaneously within 1-3 years
Monitor pubertal progression and hormonal status.
Medical Management:
Pharmacologic treatment is generally reserved for persistent, symptomatic true gynecomastia after puberty or in specific pathologic conditions
Options include aromatase inhibitors (e.g., anastrozole, letrozole) or selective estrogen receptor modulators (SERMs, e.g., tamoxifen)
Dosing and duration require expert consultation and are typically not indicated in the pediatric age group for benign pubertal gynecomastia.
Surgical Management:
Surgical intervention (e.g., mastectomy, liposuction) is typically considered for persistent, bothersome true gynecomastia after puberty, or if significant cosmetic deformity exists
Indications and timing are carefully evaluated by a pediatric surgeon and endocrinologist
It is rarely indicated in prepubertal or early pubertal boys.
Supportive Care:
Psychological support is crucial for affected adolescents, addressing body image concerns and potential bullying
Education of parents and child about the condition and its typical course
Regular follow-up to monitor pubertal development and symptom resolution
Management of any underlying systemic disease.
Complications
Early Complications:
Psychological distress, anxiety, and depression related to body image concerns
Pain and tenderness associated with breast tissue enlargement
Early complications are rare for benign causes.
Late Complications:
Persistent gynecomastia leading to long-term cosmetic concerns and psychological impact
In rare cases of malignancy, delayed diagnosis can lead to poorer prognosis
If associated with underlying genetic conditions, other organ system involvement may occur.
Prevention Strategies:
Primary prevention focuses on maintaining a healthy weight in childhood to reduce the incidence of obesity-related pseudogynecomastia
Avoiding exposure to known endocrine disruptors and unnecessary medications
Early diagnosis and management of endocrine disorders are crucial.
Prognosis
Factors Affecting Prognosis:
The underlying cause is the most significant factor
Obesity-related pseudogynecomastia and benign pubertal gynecomastia have an excellent prognosis with spontaneous resolution or weight management
True gynecomastia due to malignancy or severe endocrine disorders carries a prognosis dependent on the primary condition.
Outcomes:
Most cases of adolescent gynecomastia and pseudogynecomastia resolve spontaneously with time and weight loss
Persistent cases may benefit from medical or surgical intervention
Prognosis for malignancy-associated gynecomastia depends on the specific cancer.
Follow Up:
Regular follow-up with a pediatrician or pediatric endocrinologist is recommended, particularly for true gynecomastia, to monitor for resolution, progression, or development of complications
For obesity-related pseudogynecomastia, follow-up focuses on weight management and overall health.
Key Points
Exam Focus:
Differentiating pseudogynecomastia (fat) from true gynecomastia (glandular tissue) on palpation is a key clinical skill
Understand the hormonal milieu of puberty and common endocrine causes of true gynecomastia (e.g., Klinefelter, Leydig cell tumors)
Recognize medications that cause gynecomastia.
Clinical Pearls:
Always start with a thorough history and physical examination, including Tanner staging and testicular volume measurement
Reassurance is paramount for benign conditions
Never dismiss unexplained gynecomastia without appropriate hormonal workup, especially if pubertal development is abnormal or other systemic symptoms are present.
Common Mistakes:
Over-investigating obesity-related pseudogynecomastia
Under-investigating true gynecomastia, particularly in the presence of other signs of endocrine dysfunction
Delaying referral to endocrinology or surgery when indicated
Incorrectly attributing all breast enlargement in obese boys to simple fat accumulation without considering glandular pathology.