We present a 15-year-old male with a two-year history of gynecomastia and a four-month history of gradually enlarging abdomen and right flank pain. Examination revealed severe stunting with breast mass Tanner Stage 3, penile stage 2, and hepatosplenomegaly. Laboratory investigations showed normal blood counts, liver function tests, alpha-fetoprotein, and beta-human chorionic gonadotropin. The imaging findings demonstrated multiple confluent masses in the liver, histologically diagnosed as fibrolamellar hepatocellular carcinoma.
gynecomastia ; fibrolamellar hepatocellular carcinoma ;

Aromatase deficiency (AD) is a rare autosomal recessive genetic disease caused by loss-of-function mutations in aromatase gene (CYP19A1), leading to congenital estrogen deficiency syndrome. Both mothers of AD patients during pregnancy and female AD fetus show virilization, while male patients are usually diagnosed in adulthood due to continued height increase and metabolic abnormalities. In 2019, a patient with AD was admitted in the Second Xiangya Hospital. The patient was a 37-year-old adult male who continued to grow linearly after adulthood. His estradiol was below the measurable line, the follicle-stimulating hormone (FSH) increased, bone age delayed, epiphysis unfused, and the bone mass reduced. CYP19A1 gene detection showed that c.1093C>T, p.R365W was homozygous mutation. This disease is rare in clinic. Clinicians need to raise awareness of the disease for early diagnosis and treatment to improve the long-term prognosis of patients.
46, XX Disorders of Sex Development/genetics* ; Adult ; Aromatase/metabolism* ; Female ; Gynecomastia/genetics* ; Humans ; Infertility, Male ; Male ; Metabolism, Inborn Errors ; Mutation ; Pregnancy

Adrenocortical carcinoma is a rare type of endocrine malignancy with an annual incidence of approximately 1–2 cases per million. The majority of these tumors secrete cortisol, and a few secrete aldosterone or androgen. Estrogen-secreting adrenocortical carcinomas are extremely rare, irrespective of the secretion status of other adrenocortical hormones. Here, we report the case of a 53-year-old man with a cortisol and estrogen-secreting adrenocortical carcinoma. The patient presented with gynecomastia and abdominal discomfort. Radiological assessment revealed a tumor measuring 21×15.3×12 cm localized to the retroperitoneum. A hormonal evaluation revealed increased levels of estradiol, dehydroepiandrosterone sulfate, and cortisol. The patient underwent a right adrenalectomy, and the pathological examination revealed an adrenocortical carcinoma with a Weiss' score of 6. After surgery, he was treated with adjuvant radiotherapy. Twenty-one months after treatment, the patient remains alive with no evidence of recurrence.
Adrenal Gland Neoplasms ; Adrenalectomy ; Adrenocortical Carcinoma ; Aldosterone ; Dehydroepiandrosterone Sulfate ; Estradiol ; Gynecomastia ; Humans ; Hydrocortisone ; Incidence ; Male ; Middle Aged ; Radiotherapy, Adjuvant ; Recurrence

Gynecomastia is a common benign disease characterized by the progressive enlargement of the glandular tissue of the male breast due to an imbalance between the levels of estrogen and androgen in the blood. The etiology may vary and may be physiological, pharmacological, pathological, or even idiopathic. Among men, drug-induced gynecomastia may account for 10% to 20% of cases. The literature contains six case reports of rosuvastatin-induced gynecomastia. Withdrawal of statin or switching to a less potent statin can lead to symptom improvement and avoidance of unnecessary tests and patient anxiety. A 62-year-old male patient developed unilateral gynecomastia after 13 months of rosuvastatin therapy. After switching to a different statin (pravastatin), his symptoms improved within 2 months. Thus, clinicians should be aware of the possibility of occurrence of gynecomastia when statins are prescribed.
Anxiety ; Breast ; Drug-Related Side Effects and Adverse Reactions ; Estrogens ; Gynecomastia ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors ; Male ; Middle Aged ; Rosuvastatin Calcium

Transsexual individuals with gender dysphoria or gender identity disorder are rare, with a prevalence reported to range from 0.002% to 0.014%. Studies have shown that mastectomy yields significant improvements in body image and self-esteem in female-to-male transsexual patients. In patients with grade III breast ptosis, mastectomy with a nipple-areolar complex (NAC) graft is the most commonly used technique, although it has several disadvantages. In the case described herein, a bilateral mastectomy preserving the NAC in an inferior pedicle was performed. Additionally, a thin superior thoracic dermal-fat flap was preserved and eventually sutured at the previous inframammary fold, preventing an inverted T scar. This case shows the advantage of this technique for preserving the blood supply and innervation of the NAC, with a low hypopigmentation risk. Furthermore, in this technique, the patch effect does not impair the results of the NAC graft, and there is no need to use an inverted T scar that may result in thoracic feminization.
Body Image ; Breast ; Cicatrix ; Feminization ; Gender Dysphoria ; Gender Identity ; Gynecomastia ; Humans ; Hypopigmentation ; Male ; Mastectomy ; Prevalence ; Thorax ; Transplants ; Transsexualism

BACKGROUND: Gynecomastia is a common condition that can cause severe emotional and physical distress in both young and older men. Patients in whom symptomatic recalcitrant gynecomastia persists for a long time are potential candidates for surgery. METHODS: From January 2014 to January 2016, 15 patients underwent correction of gynecomastia through a single 3-mm incision at our institution. Only patients with true gynecomastia underwent surgery with this new technique. Through the small incision, sharp dissection was performed in a clockwise and counterclockwise direction describing two half-circles. Health-related quality of life and aesthetic outcomes were evaluated using a modified version of the Breast Evaluation Questionnaire (BEQ). RESULTS: The patients’ average age was 23.5 years (range, 18–28 years), and their average body mass index was 23.2 kg/m² (range, 19.2–25.3 kg/m²). One case was unilateral and 14 cases were bilateral. The weight of glandular tissue resected from each breast ranged from 80 to 170 g. No excess skin was excised. Bleeding was minimal. The mean operating time was 25 minutes (range, 21–40 minutes). No complications were recorded. All lesions were histologically benign. The patients’ average score was 3.5 (on a 5-point Likert scale) in all domains of the BEQ for themselves and their partners. CONCLUSIONS: In this study, we demonstrated the safety and reliability of a new technique that allows mastectomy through an imperceptible 3-mm incision. We obtained high patient satisfaction scores using our surgical technique, and patients reported considerable improvement in their social, physical, and psychological well-being after surgery.
Body Mass Index ; Breast ; Gynecomastia ; Hemorrhage ; Humans ; Lipectomy ; Male ; Mastectomy ; Outcome Assessment (Health Care) ; Patient Satisfaction ; Quality of Life ; Skin

Klinefelter syndrome (KS) is characterized by small testes, gynecomastia, tall stature, and hypergonadotropic hypogonadism. This condition is associated with extra X chromosomes. It is well known that these aneuploidies predispose individuals to the development of several cancers. Moreover, there are many case reports that show KS patients to have a higher relative risk for the development of malignancy. However, incracranial germ cell tumor (ICGCT) associated with KS is very uncommon. Herein, we report delayed diagnosis of KS in a 15-year-old boy with ICGCT, embryonal carcinoma of the pineal gland, after multimodality treatment in Korea.
Adolescent ; Aneuploidy ; Carcinoma, Embryonal ; Delayed Diagnosis ; Gynecomastia ; Humans ; Hypogonadism ; Klinefelter Syndrome ; Korea ; Male ; Neoplasms, Germ Cell and Embryonal ; Pineal Gland ; Testis ; X Chromosome

Amenorrhea, oligomenorrhea, galactorrhoea, gynecomastia, infertility, and sexual dysfunction may arise as a consequence of hyperprolactinemia. Hyperprolactinemia is one of major side effects of treatment with antipsychotics, but aripiprazole is known as a dopamine stabilizer antipsychotic which can be used to improve hyperprolactinemia. In this report, it was described that an adolescent patient experienced amenorrhea after adding very low dose aripiprazole to ongoing fluoxetine treatment regime for major depressive disorder. Additionally, this case showed that the patient recovered from the amenorrhea with replacement of aripiprazole with quetiapine.
Adolescent* ; Amenorrhea* ; Antipsychotic Agents ; Aripiprazole* ; Depressive Disorder, Major ; Dopamine ; Female ; Fluoxetine ; Gynecomastia ; Humans ; Hyperprolactinemia ; Infertility ; Male ; Oligomenorrhea ; Quetiapine Fumarate

Pediatric breast disease is uncommon, and primary breast carcinoma in children is extremely rare. Therefore, the approach used to address breast lesions in pediatric patients differs from that in adults in many ways. Knowledge of the normal imaging features at various stages of development and the characteristics of breast disease in the pediatric population can help the radiologist to make confident diagnoses and manage patients appropriately. Most breast diseases in children are benign or associated with breast development, suggesting a need for conservative treatment. Interventional procedures might affect the developing breast and are only indicated in a limited number of cases. Histologic examination should be performed in pediatric patients, taking into account the size of the lesion and clinical history together with the imaging findings. A core needle biopsy is useful for accurate diagnosis and avoidance of irreparable damage in pediatric patients. Biopsy should be considered in the event of abnormal imaging findings, such as non-circumscribed margins, complex solid and cystic components, posterior acoustic shadowing, size above 3 cm, or an increase in mass size. A clinical history that includes a risk factor for malignancy, such as prior chest irradiation, known concurrent cancer not involving the breast, or family history of breast cancer, should prompt consideration of biopsy even if the lesion has a probably benign appearance on ultrasonography.
Acoustics ; Adolescent* ; Adult ; Biopsy ; Biopsy, Large-Core Needle ; Breast Diseases ; Breast Neoplasms ; Breast* ; Child* ; Diagnosis* ; Fibroadenoma ; Gynecomastia ; Humans ; Male ; Phyllodes Tumor ; Risk Factors ; Shadowing (Histology) ; Thorax ; Ultrasonography

A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization. Polymerase chain reaction and direct sequencing were used to clarify the deleted loci of the Y chromosome by making use of Y-specific sequence-tagged sites (STSs). The sex-determining region Y and centromere were verified, and there were microdeletions on the long arm of the Y chromosome. The azoospermia factor (AZF) b region was partially deleted, and AZFa and AZFc were completely deleted. Two STS probes of sY143 and the Y chromosome RNA recognition motif in AZFb showed positive signals corresponding to Yq11.223. The karyotype of the patient was interpreted as 46,X,der(Y)del(Y)(q11.21q11.222)del(Y)(q11.23qter). Herein, we report a rare case of a boy presenting with gynecomastia and short stature with 46, X, +mar, which originated from the Y chromosome, which was identified to have Yq microdeletions.
Adolescent ; Arm ; Azoospermia ; Centromere ; Estradiol ; Fluorescence ; Follicle Stimulating Hormone ; Foot ; Genitalia ; Gynecomastia* ; Hand ; Humans ; In Situ Hybridization ; Karyotype ; Male* ; Metacarpal Bones ; Metatarsal Bones ; Overweight ; Polymerase Chain Reaction ; Reference Values ; RNA ; Sequence Tagged Sites ; Testosterone ; Toes ; Y Chromosome