A 15-year-old boy presents with history of breast enlargement noticed for the past 3 years. It was initially painful for the first 6 months and subsequently, the pain subsided. At this point, he was evaluated by a pediatrician in his annual school health examination, who noticed small testes in addition to gynecomastia. He was then referred to an endocrinologist for further evaluation, where the boy and his parents give the following clinical history. His birth weight was 3 kg. He was born after a term pregnancy by normal vaginal delivery and had a birth weight of 3 kg. Subsequent postnatal history did not include any neonatal seizures or prolonged neonatal jaundice. Subsequent development was age appropriate. He did not experience any episodes of seizures, or prolonged neonatal jaundice. There was no history of any chronic disease, central nervous system trauma, infections or irradiation. There is no history of abdominal or scrotal trauma, surgery or irradiation. He also did not receive any chemotherapy in the past. He does not give any history suggestive of orchitis or other scrotal infections. There is also no history of anosmia. His mother, however, complains of below par scholastic performance with average to poor grades. There is no consanguinity, family history of gyneco-mastia, delayed puberty, anosmia or infertility. Pubertal development was noticed at about 12 years of age. He has one sister who has had normal pubertal development. On examination, the child has a height of 176 cm and weight of 65 kg. Mid-parental height is 166 cm. Arm span is 184 cm and upper to lower segment ratio was 0.83, which is suggestive of eunuchoid proportions. He has sparse facial hair. Axillary (Tanner Stage 2) and pubic hair (Tanner Stage 3) are sparse but present. Stretched penile length is 7.8 cm and bilaterally testes are palpable, small and firm, with a volume of 5 mL. He does not have goiter. His pulse is 74 per minute, blood pressure is 118/60 mm Hg, and respiratory rate is 18. He has a nontender gynecomastia with 5 cm of palpable tissue on the right and 3 cm on the left. His abdomen is soft with no palpable masses and other systems are also normal. No anosmia is appreciated on examination. Biochemical testing reveals normal thyroid, liver and renal functions. Elevated levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) at 22 mIU/mL (normal 1.4–12) and 53 mIU/mL (normal 0.6–15 mIU/mL) respectively are discovered, with a low testosterone of 14 ng/dL (normal 350–850 ng/dL). A karyotype is ordered, and is 47XXY, which confirms Klinefelter’s syndrome. A detailed evaluation by a psychologist reveals some impulsivity and a normal Intelligence Quotient (IQ).
How do you evaluate a person with gynecomastia?
Medicine
The crux of evaluating a person with gynecomastia lies in ruling out systemic, endocrine or neoplastic causes of gynecomastia, so that unnecessary diagnostic evaluation and treatment is avoided (Flowchart 10.1). Hence, the evaluation relies on three basic questions:
• Is this true gynecomastia?
• If this is true gynecomastia, is this physiological?
• If this is not physiological gynecomastia, what is the cause?
To answer the first question, differentiating true gynecomastia from pseudo-gynecomastia is best achieved by clinical examination. Most of the breast prominence is pseudogynecomastia is due to subcutaneous fat (lipomastia) and on palpation, the cord-like firm breast tissue which is palpable in true gynecomastia is never felt. Also a comparison of the subareolar mass with adjacent subcutaneous fat in the axilla helps better in differentiation. Etiology of true gynecomastia is best achieved by taking a detailed and relevant history, physical examination and judicious use of diagnostic tests. History should include information about age of onset (for age of presentation of physiological gynecomastia, vide supra), mode of presentation (whether unilateral or bilateral, tender or nontender), history of chronic disorders (renal, hepatic, thyrotoxicosis, primary or secondary hypogonadism, medications, exposure to sources of estrogens and history of testicular or prostate carcinoma). Family history of gynecomastia—(aromatase excess) and ambiguous genitalia (androgen insensitivity) should also be recorded. Mode of onset can often give valuable clues with firm to hard breast mass, fixation to underlying structures, eccentric location and ulceration or nipple retraction, associated axillary lymph nodes and discharge (especially if bloodstained) pointing towards breast malignancy.
Physical examination should include examination for signs of all the chronic systemic diseases mentioned above, palpation for goiter and a systematic breast examination for the malignant signs elucidated above. It should also include a palpation of abdomen and scrotum and evaluation of secondary sexual characters. Biochemical evaluation should be judicious and a basic work-up should include liver, renal and thyroid function tests, measurement of gonadotropins, testosterone and also, as and when required, estrogens, prolactin, β-hCG, α-fetoprotein and adrenal androgens like DHEAS and 17-OH progesterone (less commonly). Ultrasound of scrotum and CT abdomen are routinely not requested except when an abdominal or testicular malignancy is suspected. Mammography has a role only if breast malignancy is suspected. Men with Klinefelter syndrome need more extensive evaluation because they have a 20- to 60-fold increase in breast cancer risk compared with normal men. However, mammography is not
recommended as a routine, since their absolute risk of breast malignancy is still much lesser than women.
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