gynecomastia occurs due to increase level of estradiol , decreased androgen level or imbalance between estrogen and androgen .
familial gynecomastia occurs because of increased peripheral aromatization in families and due to inversion in chromosome 15q21.2 - 3 resulting in increased estrogen production in fatty tissue .
gynecomastia requires urgent and extensive evaluation if it is recent onset , rapidly growing , tender and occurs in lean subjects .
it is rare for gynecomastia predisposing to carcinoma except in klinfelter syndrome ( kfs ) .
surgery is indicated for cosmetic reasons like increase in size , tenderness and in suspected malignancy .
two brothers , 18-years - old and 14-years - old , born out of non - consangious marriage , were brought by their father in endocrine out - patient department ( opd ) with complaints of swelling in both breast since 6 years and 2 years , respectively . on investigation
, the breast swellings were gradually increasing in size and painless with no discharge from the nipple .
no history of chronic use of drugs , local applications of ointments or substance abuse was reported .
no history of palpitation , weight loss , headache , diminution of vision , viral infections , trauma or similar complaints in any other family member .
patients father attained puberty at the age of 22 years and mother 's age of menarche was 12 years .
pulse = 84/min , blood pressure ( bp ) = 122/82 , 114/80 mm of hg supine and standing , respectively height = 154 cm , weight = 52 kg , body mass index ( bmi ) = 21.94 kg / m , arm span = 153 cm , upper segment = 78 cm , lower segment = 76 cm .
both the breasts were firm , 2.5 cm  1.9 cm in size ( tanner stage iii ) , not attached to underlying tissue , non - tender .
pulse = 88/min , bp = 116/78 , 110/76 mm of hg in supine and standing position , respectively , height = 160 cm , weight = 59 kg , bmi = 23.04 kg / m , arm span = 165 cm , upper segment = 77 cm , lower segment = 83 cm patient had eunochoid physique , wide hip , narrow shoulders , no facial hair .
axillary hairs were sparse , pubic hair had feminine distribution ( tanner stage ii ) .
genitals appeared prepubertal , testis volume 2/2 ( prader orchidometer ) = 5 cm , stretched penile length of 4 cm , thin scrotal skin .
both the breasts were 4.1 cm  3.8 cm ( tanner stage v ) , firm , non - tender , not attached to underlying tissue .
hb = 13.4 gm% , tc = 8900 cells / cu mm , blood glucose fasting = 92 mg% and post - prandial glucose 134 mg% , total bilirubin = 0.6 mg% , sgpt and sgot within normal limits , serum creatinine = 0.9 mg% .
serum fsh = 5.42 miu / ml , serum lh = 1.82 miu / ml , serum prolactin = 6.75 ng / ml , serum testosterone = 500.8 ng / dl , tsh 2.01 = miu / ml , ft4 = 7.4 mgm / dl , ft3 = 129.18 ng / dl , serum cortisol ( 8 am ) = 14.5 mgm / dl .
ultrasonography of the chest showed fat deposition in subcutaneous plane , glandular tissue ( right > left ) .
ultrasonography of the scrotum = right testis 3.5  2.1  1.3 cm , left testis 3.4  2.1  1.8 cm , left epididimal cyst . in view of normal clinical , biochemical , hormonal , and radiological investigations
hb = 11.6 gm% , tc = 7100 cells / cmm , blood sugar fasting = 92 mg% and post - prandial = 112 mg% , total bilirubin = 0.6 mg% , sgpt and sgot within normal limits , serum creatinine = 1 mg% .
serum fsh = 42.04 miu / ml , serum lh = 47.2 miu / ml serum prolactin = 4.9 ng / ml , serum testosterone = 191.77 ng / dl , tsh = 1.41 miu / ml , ft4 = 9.9 mgm / dl , ft3 = 168.5 ng / dl , serum cortisol ( 8 am ) = 16.1 mgm / dl . ultrasonography of the chest showed fat deposition in subcutaneous plane , glandular tissue ( right > left ) .
ultrasonography of the abdomen = normal , ultasonography of the scrotum = right testis 1.1  1.1  0.8 cm , left testis 1  0.8  0.5 cm suggestive of atrophic hypoplastic testis .
his karyotype revealed 47xxy . in view of cinical , biochemical , hormonal , radiological investigations and karyotype ,
pulse = 84/min , blood pressure ( bp ) = 122/82 , 114/80 mm of hg supine and standing , respectively height = 154 cm , weight = 52 kg , body mass index ( bmi ) = 21.94 kg / m , arm span = 153 cm , upper segment = 78 cm , lower segment = 76 cm .
both the breasts were firm , 2.5 cm  1.9 cm in size ( tanner stage iii ) , not attached to underlying tissue , non - tender .
pulse = 88/min , bp = 116/78 , 110/76 mm of hg in supine and standing position , respectively , height = 160 cm , weight = 59 kg , bmi = 23.04 kg / m , arm span = 165 cm , upper segment = 77 cm , lower segment = 83 cm patient had eunochoid physique , wide hip , narrow shoulders , no facial hair .
axillary hairs were sparse , pubic hair had feminine distribution ( tanner stage ii ) .
genitals appeared prepubertal , testis volume 2/2 ( prader orchidometer ) = 5 cm , stretched penile length of 4 cm , thin scrotal skin .
both the breasts were 4.1 cm  3.8 cm ( tanner stage v ) , firm , non - tender , not attached to underlying tissue .
hb = 13.4 gm% , tc = 8900 cells / cu mm , blood glucose fasting = 92 mg% and post - prandial glucose 134 mg% , total bilirubin = 0.6 mg% , sgpt and sgot within normal limits , serum creatinine = 0.9 mg% .
= 135 meq / l , serum potassium = 4.1 meq / l . serum fsh = 5.42 miu / ml , serum lh = 1.82 miu / ml , serum prolactin = 6.75 ng / ml , serum testosterone = 500.8 ng / dl , tsh 2.01 = miu / ml , ft4 = 7.4 mgm / dl , ft3 = 129.18 ng / dl , serum cortisol ( 8 am ) = 14.5 mgm / dl .
ultrasonography of the chest showed fat deposition in subcutaneous plane , glandular tissue ( right > left ) .
ultrasonography of the scrotum = right testis 3.5  2.1  1.3 cm , left testis 3.4  2.1  1.8 cm , left epididimal cyst . in view of normal clinical , biochemical , hormonal , and radiological investigations
hb = 11.6 gm% , tc = 7100 cells / cmm , blood sugar fasting = 92 mg% and post - prandial = 112 mg% , total bilirubin = 0.6 mg% , sgpt and sgot within normal limits , serum creatinine = 1 mg% .
serum fsh = 42.04 miu / ml , serum lh = 47.2 miu / ml serum prolactin = 4.9 ng / ml , serum testosterone = 191.77 ng / dl , tsh = 1.41 miu / ml , ft4 = 9.9 mgm / dl , ft3 = 168.5 ng / dl , serum cortisol ( 8 am ) = 16.1 mgm / dl .
ultrasonography of the chest showed fat deposition in subcutaneous plane , glandular tissue ( right > left ) .
ultrasonography of the abdomen = normal , ultasonography of the scrotum = right testis 1.1  1.1  0.8 cm , left testis 1  0.8  0.5 cm suggestive of atrophic hypoplastic testis .
his karyotype revealed 47xxy . in view of cinical , biochemical , hormonal , radiological investigations and karyotype ,
familial gynecomastia is rare , with description of three brothers in a single family and was due to increased extraglandular aromatase activity . in pubertal boys
it is generally subaerolar nodule and may regress in half to approximately one and half year in majority of cases .
kfs described by harry f. klinefelter is the most common chromosomal abnormality associated with primary testicular failure and infertility .
gynecomastia is present in about > 40% of kfs patients . in physiological or familial gynecomastia
but in kfs , estradiol levels are high already in the prepubertal age , irrespective of development of gynecomastia .
testosterone treatment , testicular volume , bone density , as well as the social status of the patients are inversely related to gynecomastia . whereas , height and gynecomstia are positively correlated .
bilateral gynecomastia in kfs is seen in 42% patients in pubertal age , with small testes and neurodevelopmental disorders . whereas gynecomastia is the presenting symptom in 10% and sign in 33% of adults kfs . from an endocrinological standpoint ,
patient 's complaints may vary , according to gonadal dysfunction , from signs of sex hormone deficiency in young adults to infertility in a male without other signs of hypogonadism . before puberty ,
the condition is usually under recognized due to the fact that childhood is a period characterized by normally low testosterone levels and no sperm .
histologically , there is hyperplasia of interductal tissue , unlike ductal hyperplasia seen in other high estrogen states .
there is a high risk of carcinoma breast , about 60-fold higher than normal men .
this high risk is due to the hyperestrognic state secondary to increase aromatization of testosterone to estradiol and over expression of oncogene on x chromosome that has escaped inactivation .
no treatment is required except reassurance of the patient which was given to the younger brother .
the younger brother was advised dietary modification , weight loss in addition to increased physical activity , however , he later underwent for bilateral surgical resection .
elder brother in view of his clinical and biochemical profile was started on testosterone injection after discussion with patient and family members .
for the family it was devastating to learn that over the years they were told gynecomastia was normal in the elder sib and would go away with age .
however , after confirmation of diagnosis and extensive discussion and counseling of the family members they were relieved and proceeded with further treatment of their children .
our case was unusual as both brothers in one family developed gynecomastia in their adolescence , but had different etiologies and both required different management strategies .
management in such cases requires assurance , reassurance , therapeutic trial of drugs , family counseling , or surgical approach depending on an individual case .
 gynecomastia is a common occurrence in pubertal age group , and is physiological in up to 65 percent of cases . 
 when occurs in the family it should be investigated in order not to miss on a treatable etiology . 
 two brothers within the same family , presenting with bilateral gynecomastia of different causes and requiring different treatment are presented . 
I
C
Examination of younger brother
Examination of elder brother
Investigations in younger brother
Investigations in elder brother
D