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1.
Obes Surg ; 34(3): 836-840, 2024 Mar.
Article En | MEDLINE | ID: mdl-38282174

PURPOSE: With the increase in obesity epidemic among Asians, it is necessary to evaluate the impact of obesity on this population. Low testosterone levels are known to be associated with obesity. This is the 1st study from Asia to evaluate incidence and magnitude of hypotestosteronemia in young adults with BMI more than 32.5 kg/m2 defined as moderate to severe obesity in Asians. MATERIALS AND METHODS: One hundred thirty-four male patients with BMI more than 32.5 kg/m2, between 18 and 30 years old who visited a single bariatric facility between 2017 and 2020, were evaluated with BMI, total and free testosterone levels and clinical features of gynecomastia, hypogonadism, and thinning of pubic and armpit hair. Statistical analysis was performed using SPSS, Spearman's correlation coefficient, and ANOVA test. RESULTS: 60.4% of patients (84/134) had low testosterone levels (< 300 ng/dl) and 23.9% (32/134) had levels between 300 and 400 ng/dl. 89.6% patients (120/134 had gynecomastia, 60.4% (81/134) had thinning of pubic and arm pit hair, and 62.7% (84/134) had hypogonadism. Testosterone levels showed a decreasing trend with increasing BMI, but it was not statistically significant. CONCLUSION: Obesity is one of the important etiologies of hypotestosteronemia and its manifestations in young adults. The actual incidence may be significantly higher than what is reported in the literature. High-quality research is required to address questions of diagnosis and best treatment options.


Gynecomastia , Hypogonadism , Obesity, Morbid , Young Adult , Humans , Male , Adolescent , Adult , Obesity, Morbid/surgery , Testosterone , Gynecomastia/complications , Gynecomastia/drug therapy , Incidence , Obesity/complications , Obesity/epidemiology , Obesity/drug therapy , Hypogonadism/complications , Hypogonadism/epidemiology
2.
Br J Clin Pharmacol ; 90(1): 350-353, 2024 01.
Article En | MEDLINE | ID: mdl-37917870

A middle-aged Caucasian man living with HIV, clinically stable (viral load <20 copies/mL) on injectable antiretroviral cabotegravir plus rilpivirine every 2 months presented with a 6-month history of bilateral enlargement of the breasts associated with pain. His hormonal profile was normal, and no other underlying cause was identified. He was diagnosed with idiopathic gynecomastia. Tamoxifen is an anti-oestrogen recommended for gynecomastia and has been described in people living with HIV but can potentially induce the activity of cytochrome P450 3A4 (CYP3A4), reducing rilpivirine concentrations, which consequently may cause virological failure and resistance. This is the same for other antiretroviral agents majorly induced by CYP3A4. To date, there have been no reported cases of using anastrozole as a treatment for gynecomastia in people living with HIV or of its co-administration with antiretroviral. We describe the use of an aromatase inhibitor instead of tamoxifen in a person living with HIV, diagnosed with gynecomastia.


Anti-HIV Agents , Gynecomastia , HIV Infections , Male , Middle Aged , Humans , Anastrozole/therapeutic use , Gynecomastia/chemically induced , Gynecomastia/drug therapy , Cytochrome P-450 CYP3A , HIV Infections/complications , HIV Infections/drug therapy , Rilpivirine/therapeutic use , Anti-Retroviral Agents/therapeutic use , Tamoxifen/adverse effects , Anti-HIV Agents/adverse effects
4.
Am J Case Rep ; 23: e937370, 2022 Nov 06.
Article En | MEDLINE | ID: mdl-36335424

BACKGROUND Male breast cancer represents a rare malignancy with identifiable risk factors, including genetics, radiation exposure, liver dysfunction, and concomitant diagnosis of Klinefelter syndrome. Gynecomastia can commonly present in these patients, and despite increased estrogen levels in adipose breast tissue, gynecomastia has not been proven to be a significant risk factor for carcinoma development. Male patients with new-onset breast masses are recommended to undergo diagnostic mammograms and breast ultrasound for further evaluation. Those diagnosed with breast cancer most commonly have invasive ductal carcinoma of the breast, and over half of these patients are found to have estrogen and progesterone receptor (ER/PR) positivity. CASE REPORT In this case report, we present a Black man with gynecomastia and an areolar lesion for a 6-month duration following a traumatic event. He was initially referred to the surgical team for further evaluation, and subsequent imaging and biopsy data revealed ER/PR-positive invasive ductal carcinoma. Multidisciplinary discussions were held, and the patient was arranged to begin neoadjuvant treatment with doxorubicin hydrochloride and cyclophosphamide, followed by treatment with paclitaxel (AC-T) chemotherapy, followed by bilateral mastectomy and adjuvant hormonal therapy. CONCLUSIONS The treatment of male breast cancer has remained relatively like that of female breast cancer, which may be due to the limited data in the treatment of male breast cancer. Thus far, studies involving neoadjuvant chemotherapy of female patients have demonstrated promising responses to expand surgical options for patients and possibly decrease the rates of recurrence. Additional studies are warranted to discern optimal therapy for the male patient population.


Breast Neoplasms, Male , Breast Neoplasms , Carcinoma, Ductal, Breast , Carcinoma, Ductal , Gynecomastia , Humans , Male , Female , Neoadjuvant Therapy , Breast Neoplasms/pathology , Receptors, Progesterone/therapeutic use , Receptor, ErbB-2 , Receptors, Estrogen/therapeutic use , Mastectomy , Breast Neoplasms, Male/surgery , Gynecomastia/etiology , Gynecomastia/drug therapy , Gynecomastia/surgery , Estrogens/therapeutic use , Carcinoma, Ductal/drug therapy , Carcinoma, Ductal/surgery , Carcinoma, Ductal, Breast/therapy , Carcinoma, Ductal, Breast/drug therapy , Chemotherapy, Adjuvant
5.
Andrologia ; 54(11): e14640, 2022 Dec.
Article En | MEDLINE | ID: mdl-36369454

To compare the clinical efficacy of tamoxifen and Chinese patented medicine (Pingxiao capsules) in patients with gynecomastia and discuss the safety of the two treatments. We retrospectively analysed the clinical data of 388 male patients with gynecomastia who were treated in the Outpatient Clinic of our hospital between January 2010 and December 2020. There were 103 patients in the tamoxifen (TAM) group and 103 patients in the Chinese patented medicine group. There were 182 patients in the observation group (non-medication group; age range, 11-75 years; average age, 33.1 years). The natural outcomes were compared between the observation and two medication groups under the same conditions. Disease progression was compared between the observation and two medication groups over the same treatment duration to confirm the efficacy of the medication treatments. Patients with clinical grade 2 gynecomastia accounted for the highest proportion of patients in the TAM group. The percentage of patients with clinical grade 2 gynecomastia was comparable in the Chinese patented medicine and observation groups. The percentage of patients with clinical grades 1 and 3 gynecomastia was the lowest in the TAM group and comparable among the three groups (p = 0.014). The TAM group had the largest number of patients achieving breast shrinkage, and therefore had the best efficacy (p = 0.000). Among the three groups, the surgery rate was the highest in the observation group (p = 0.000). Patients with the greatest glandular tissue thickness achieved better outcomes after medication treatment (p = 0.000). Patients with a higher clinical grade also had a higher surgery rate (p = 0.000). Some patients from the TAM and Chinese patented medicine groups had side effects. TAM results in better outcomes than Chinese patented medicine in gynecomastia patients. The surgery rate is the highest in the observation group. In addition, among some patients with a greater glandular tissue thickness, the higher the clinical grade is, the higher the surgery rate is. Both TAM and Chinese patented medicine cause some side effects and should be used with caution along with continuous follow-up evaluation of patients receiving either treatment.


Breast Neoplasms , Gynecomastia , Humans , Male , Adult , Child , Adolescent , Young Adult , Middle Aged , Aged , Tamoxifen/adverse effects , Gynecomastia/drug therapy , Gynecomastia/chemically induced , Retrospective Studies , Treatment Outcome , China , Breast Neoplasms/chemically induced , Breast Neoplasms/drug therapy
6.
J Pediatr Endocrinol Metab ; 35(12): 1565-1570, 2022 Dec 16.
Article En | MEDLINE | ID: mdl-36181314

OBJECTIVES: Large cell calcifying Sertoli cell tumours (LCCSCTs) are one of the infrequent causes of prepubertal gynaecomastia. Most of these tumours are in the content of Peutz-Jeghers syndrome (PJS) or other familial syndromes (Carney complex). CASE PRESENTATION: Here, we report a long-term follow-up of an 8.5-year-old prepubertal boy with a diagnosis of PJS, who presented with bilateral gynaecomastia, advanced bone age and accelerated growth velocity, and were found to have bilateral multifocal testicular microcalcifications. As the findings were compatible with LCCSCT, anastrozole was initiated. Gynaecomastia completely regressed and growth velocity and pubertal development were appropriate for age during follow-up. Testicular lesions slightly increased in size. After four years of medication, anastrozole was discontinued but was restarted due to the recurrence of gynaecomastia after six months. CONCLUSIONS: Testicular tumour should be investigated in a patient with PJS who presents with prepubertal gynaecomastia. When findings are consistent with LCCSCT, aromatase inhibitors may be preferred in the treatment.


Gynecomastia , Peutz-Jeghers Syndrome , Sertoli Cell Tumor , Testicular Neoplasms , Male , Humans , Child , Sertoli Cell Tumor/complications , Sertoli Cell Tumor/drug therapy , Aromatase Inhibitors/therapeutic use , Anastrozole/therapeutic use , Gynecomastia/drug therapy , Gynecomastia/etiology , Peutz-Jeghers Syndrome/diagnosis , Testicular Neoplasms/complications , Testicular Neoplasms/drug therapy , Testicular Neoplasms/pathology
7.
Hypertension ; 79(10): 2305-2315, 2022 10.
Article En | MEDLINE | ID: mdl-35880517

BACKGROUND: Limited evidence exists regarding long-term effectiveness and safety of aldosterone antagonists (AAs) versus beta blockers (BBs) as fourth-line antihypertensive agents in patients with resistant hypertension (RH). We evaluated the comparative effectiveness and safety of aldosterone AA versus BB. METHODS: We conducted a real-world retrospective cohort study using IBM MarketScan commercial claims and Medicare Supplemental claims (2007-2019). Patients with RH entered the cohort (ie, index date) when they newly initiated either AA or BB. The effectiveness outcome was major adverse cardiovascular events. Safety outcomes were hyperkalemia, gynecomastia, and kidney function deterioration. Potential confounding was addressed by adjustment for baseline characteristics via stabilized inverse probability of treatment weighting (SIPTW) based on propensity scores. Cox proportional hazards regression with SIPTWs were used to estimate adjusted hazard ratio (aHR) and 95% CI comparing risk for outcomes between AA and BB groups. RESULTS: We identified 80 598 patients with RH (mean age: 61 years, 51% males), of which 6626 initiated AA and 73 972 initiated BB as the fourth antihypertensive agent. Among patients with RH, initiation of AA as a fourth-line antihypertensive agent did not significantly reduce major adverse cardiovascular event risk relative to BB initiation (aHR, 0.77 [95% CI, 0.50-1.19]) but did substantially increase the risk of hyperkalemia (aHR, 3.86 [95% CI, 2.78-5.34]), gynecomastia (aHR, 9.51 [95% CI, 5.69-15.89]), and kidney function deterioration (aHR, 1.63 [95% CI, 1.34-1.99]). CONCLUSIONS: Long-term clinical trials powered to assess major adverse cardiovascular events are necessary to understand the risk-benefit trade-off of AA as fourth-line therapy for RH.


Gynecomastia , Hyperkalemia , Hypertension , Adrenergic beta-Antagonists/adverse effects , Aged , Antihypertensive Agents/adverse effects , Female , Gynecomastia/chemically induced , Gynecomastia/drug therapy , Humans , Hyperkalemia/chemically induced , Hyperkalemia/epidemiology , Hypertension/chemically induced , Hypertension/drug therapy , Male , Medicare , Middle Aged , Mineralocorticoid Receptor Antagonists/adverse effects , Retrospective Studies , United States/epidemiology
8.
G Ital Cardiol (Rome) ; 23(6): 469-476, 2022 Jun.
Article It | MEDLINE | ID: mdl-35674038

BACKGROUND: Mineralocorticoid receptor antagonists (MRAs) are a class of drugs still underused in heart failure with reduced ejection fraction. Hyperkalemia, worsening of renal function and gynecomastia are the main causes of the MRA missed prescription but also an inadequate knowledge of this class of drugs may represent a reason for their underuse. The aim of this project was to evaluate the possible usefulness of a unique and innovative web-based platform in order to identify the main issues related to the underuse of MRAs and to discuss shared strategies of interventions to overcome the obstacles to MRA prescription. METHODS: The "HF Clinical Practice project" enrolled 55 hospital cardiologists. It was based on the development and production of the eCaseTrack platform which was capable of activating a content-sharing system between professionals and specialists, using a mixed-methods study consisting of a survey, shared clinical experiences, training and consensus mini-Delphi method. RESULTS: The results of the survey showed that the respondents substantially agreed about the criteria for MRA prescription (NYHA class, left ventricular ejection fraction, glomerular filtration rate and serum potassium). This agreement was confirmed by mini-Delphi, by which the use of MRAs in patients with hypotension, hyperkalemia and gynecomastia emerged as the most controversial issue. CONCLUSIONS: A web-based system of sharing clinical experiences and discussing controversial issues, is useful to implement the introduction of a proven efficacious therapeutic strategy which is still underused in current clinical practice.


Gynecomastia , Heart Failure , Hyperkalemia , Gynecomastia/drug therapy , Heart Failure/drug therapy , Humans , Hyperkalemia/drug therapy , Male , Mineralocorticoid Receptor Antagonists/therapeutic use , Stroke Volume , Ventricular Function, Left
9.
J Int Med Res ; 50(1): 3000605221075815, 2022 Jan.
Article En | MEDLINE | ID: mdl-35098766

This study was performed to describe a rare case of granulomatous lobular mastitis (GLM) that was successfully treated with bromocriptine in a male patient with gynecomastia and hyperprolactinemia. A 20-year-old man presented with a 1-year history of breast enlargement and galactorrhea. Physical examination revealed bilateral breast enlargement, porous discharge, and a 3-cm left breast lump in the 10-o'clock quadrant. Magnetic resonance imaging of the brain showed a 1.2-mm pituitary tumor. Laboratory analysis revealed hyperprolactinemia with low serum testosterone and elevated prolactin and estradiol levels. The lump in the left breast was examined by ultrasonography and mammography, and a core needle biopsy revealed chronic inflammation. The patient's galactorrhea and breast lump disappeared after 3 months of treatment with bromocriptine at 2.5 mg once a day. His serum prolactin level also normalized. Following a review of this case, the patient was diagnosed with gynecomastia with hyperprolactinemia complicated by rare GLM. To the best of our knowledge, this is the first reported case of concurrent gynecomastia and GLM.


Galactorrhea , Granulomatous Mastitis , Gynecomastia , Adult , Breast , Female , Granulomatous Mastitis/complications , Granulomatous Mastitis/diagnostic imaging , Granulomatous Mastitis/drug therapy , Gynecomastia/complications , Gynecomastia/diagnostic imaging , Gynecomastia/drug therapy , Humans , Magnetic Resonance Imaging , Male , Pregnancy , Young Adult
10.
J Clin Endocrinol Metab ; 106(5): 1491-1500, 2021 04 23.
Article En | MEDLINE | ID: mdl-33513243

CONTEXT: Aromatase excess syndrome (AEXS) is a very rare disorder characterized by prepubertal gynecomastia, bone age acceleration, and early growth arrest. Heterozygote submicroscopic rearrangements within the promotor of CYP19A1 result in overexpression of aromatase and enhanced aromatization of androgens. OBJECTIVE: The objective was to study long-term treatment effects of an aromatase inhibitor. METHODS: Data from 7 boys with AEXS were retrospectively collected. Genetic analysis revealed upstream of CYP19A1 a 165 901 bp deletion in 4 German cousins, a 198 662 bp deletion in 2 Japanese brothers, and a 387 622 bp tandem duplication in a Japanese boy. RESULTS: All boys developed prepubertal gynecomastia, at median 9.0 years of age (range: 7.0-11.0). Height was +1.20 standard deviation score (SDS) (-0.24 to +1.98); predicted adult height was -1.29 SDS (-3.29 to +1.09). Four boys were treated with 1.0 mg of anastrozole daily, while 3 reached adult height untreated. Treatment with anastrozole was stopped after 5.6 years (4.0-6.8). Three treated boys exceeded their prognosis by 2.4, 6.9, and 8.1 cm, while 1 untreated boy fell below the prognosis by 8.6 cm. One treated with a low dose and 2 untreated reached their prognosis. Adult heights were -0.91 SDS with anastrozole (-2.86 to -0.29) and -0.15 SDS without (-2.31 to -0.03). Distance to target height was -0.22 SDS with anastrozole (-1.72 to +0.52) and +0.54 SDS without (+0.23 to +1.30). CONCLUSION: Spontaneous growth in AEXS varied, even in the same family. Our data suggest that early started, long-term inhibition by anastrozole promotes adult height in boys with AEXS.


46, XX Disorders of Sex Development/drug therapy , Aromatase Inhibitors/therapeutic use , Aromatase/genetics , Child Development/drug effects , Gynecomastia/drug therapy , Infertility, Male/drug therapy , Metabolism, Inborn Errors/drug therapy , Adolescent , Anastrozole/pharmacology , Anastrozole/therapeutic use , Aromatase/metabolism , Aromatase Inhibitors/pharmacology , Body Height/drug effects , Child , Germany , Humans , Japan , Male , Retrospective Studies , Siblings , Time Factors
12.
Strahlenther Onkol ; 196(7): 589-597, 2020 Jul.
Article En | MEDLINE | ID: mdl-32166452

AIM: To provide an overview on the available treatments to prevent and reduce gynecomastia and/or breast pain caused by antiandrogen therapy for prostate cancer. METHODS: The German Society of Radiation Oncology (DEGRO) expert panel summarized available evidence published and assessed the validity of the information on efficacy and treatment-related toxicity. RESULTS: Eight randomized controlled trials and one meta-analysis were identified. Two randomized trials demonstrated that prophylactic radiation therapy (RT) using 1â€¯× 10 Gy or 2â€¯× 6 Gy significantly reduced the rate of gynecomastia but not breast pain, as compared to observation. A randomized dose-finding trial identified the daily dose of 20 mg tamoxifen (TMX) as the most effective prophylactic dose and another randomized trial described that daily TMX use was superior to weekly use. Another randomized trial showed that prophylactic daily TMX is more effective than TMX given at the onset of gynecomastia. Two other randomized trials described that TMX was clearly superior to anastrozole in reducing the risk for gynecomastia and/or breast pain. One comparative randomized trial between prophylactic RT using 1â€¯× 12 Gy and TMX concluded that prophylactic TMX is more effective compared to prophylactic RT and furthermore that TMX appears to be more effective to treat gynecomastia and/or breast pain when symptoms are already present. A meta-analysis confirmed that both prophylactic RT and TMX can reduce the risk of gynecomastia and/or breast pain with TMX being more effective; however, the rate of side effects after TMX including dizziness and hot flushes might be higher than after RT and must be taken into account. Less is known regarding the comparative effectiveness of different radiation fractionation schedules and more modern RT techniques. CONCLUSIONS: Prophylactic RT as well as daily TMX can significantly reduce the incidence of gynecomastia and/or breast pain. TMX appears to be an effective alternative to RT also as a therapeutic treatment in the presence of gynecomastia but its side effects and off-label use must be considered.


Adenocarcinoma/drug therapy , Androgen Antagonists/adverse effects , Androgens , Antineoplastic Agents, Hormonal/adverse effects , Estrogen Receptor Modulators/therapeutic use , Gynecomastia/chemically induced , Mastodynia/chemically induced , Neoplasms, Hormone-Dependent/drug therapy , Prostatic Neoplasms/drug therapy , Tamoxifen/therapeutic use , Anastrozole/therapeutic use , Androgen Antagonists/therapeutic use , Anilides/adverse effects , Antineoplastic Agents, Hormonal/therapeutic use , Dizziness/chemically induced , Dose Fractionation, Radiation , Drug Administration Schedule , Estrogen Receptor Modulators/administration & dosage , Estrogen Receptor Modulators/adverse effects , Flushing/chemically induced , Gynecomastia/drug therapy , Gynecomastia/prevention & control , Gynecomastia/radiotherapy , Humans , Male , Mastodynia/drug therapy , Mastodynia/prevention & control , Mastodynia/radiotherapy , Meta-Analysis as Topic , Nitriles/adverse effects , Off-Label Use , Randomized Controlled Trials as Topic , Tamoxifen/administration & dosage , Tamoxifen/adverse effects , Tosyl Compounds/adverse effects
13.
BMC Pediatr ; 19(1): 515, 2019 12 26.
Article En | MEDLINE | ID: mdl-31875785

BACKGROUND: Gynecomastia develops due to the reversed estradiol-to-Testosterone ratio in adolescence, and symptoms typically improve within 2 years. The causes vary widely, including estrogen excess and tumors, and surgical treatment is usually given in late adolescence because postoperative symptoms may recur in adolescents. This study reports a case of a pediatric patient with severe gynecomastia due to excessive estradiol secretion who showed a positive outcome after receiving surgical treatment combined with aromatase inhibitor administration. CASE PRESENTATION: A 9-year old boy visited to the Department of Pediatric Endocrinology for breast budding. At that time, the patient showed breasts at Tanner stage II and no abnormality on hormone tests. During a follow-up, both gynecomastia had progressed to Tanner stage III-IV at age 13. Tamoxifen 10 mg bid was administered; however, the condition rapidly progressed to Tanner stage V at 13.5 years. The evaluation of pathologic gynecomastia showed an increase of estradiol to 296 pg/mL with normal range 10 ~ 36 pg/mL and microlithiasis in both testes. As the condition worsened, total mastectomy was performed at the age of 13.5 years. Based on the assessment that elevated aromatase activity had induced breast budding, we changed the medication to anastrozole (Arimidex) 1 mg once a day, after which the estradiol level improved to 38.5 pg/mL and was maintained well in the two-year postoperative follow-up. CONCLUSIONS: This case report shows a combined plastic surgery and appropriate medical management bring a positive outcome in severe gynecomastia patient.


Anastrozole/therapeutic use , Aromatase Inhibitors/therapeutic use , Gynecomastia/drug therapy , Gynecomastia/metabolism , Gynecomastia/surgery , Adolescent , Combined Modality Therapy , Estradiol/metabolism , Humans , Male , Severity of Illness Index
14.
Semin Oncol ; 46(2): 155-159, 2019 04.
Article En | MEDLINE | ID: mdl-31128839

Childhood cancer is relatively rare, and nowadays it is curable in more than 80% of children. Childhood cancer therapy is directed not only at improving survival but recently, we also concentrate on reducing late effects. We want children who have a diagnosis of cancer to survive and have an excellent quality of life. Gynecomastia and fertility outcome of the survivors of childhood malignancies should be considered in the follow-up of teen agers and young adults and should be approached in an accurate manner and managed in comprehensive teams.


Cancer Survivors , Gynecomastia/epidemiology , Neoplasms/drug therapy , Adolescent , Fertility/drug effects , Gynecomastia/drug therapy , Gynecomastia/etiology , Humans , Male , Neoplasms/complications , Neoplasms/epidemiology , Quality of Life , Young Adult
15.
J Int Med Res ; 47(5): 2288-2295, 2019 May.
Article En | MEDLINE | ID: mdl-30958070

This study aimed to report a unique case of primary adrenal insufficiency that was accompanied by painful gynecomastia, which was resolved by treatment with prednisone. Enlargement of the left breast with continuous weakness and generalized nausea in a male was discovered 3 months before admission. Magnetic resonance imaging of the brain was normal 1 month before presentation. A physical examination revealed that the diameter of the left breast was 5 cm and the height was 3 cm. Laboratory investigations revealed hyponatremia, with a low serum cortisol level and an elevated prolactin level. Hyperprolactinemia was suspected because of adrenal deficiency that was directly or indirectly associated with increased prolactin levels. Thus, a diagnosis of hyperprolactinemia was confirmed. Ultrasonography of the left breast showed glandular tissue hyperplasia. In the present study, treating adrenal insufficiency with prednisone relieved both gynecomastia and hyponatremia. However, gynecomastia regression and hyponatremia resolution were observed when prednisone was stopped. Gynecomastia completely resolved by re-administering prednisone. Therefore, treating the underlying disease is essential so that prednisone can be given in a timely manner.


Gynecomastia/drug therapy , Prednisone/therapeutic use , Aged , Gynecomastia/blood , Gynecomastia/diagnostic imaging , Gynecomastia/pathology , Hormones/blood , Humans , Hyperplasia , Magnetic Resonance Imaging , Male , Ultrasonography, Doppler
16.
J Pediatr Endocrinol Metab ; 32(1): 85-88, 2019 Jan 28.
Article En | MEDLINE | ID: mdl-30530883

Background Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by CYP19A1 overexpression. Clinical manifestations of AEXS include pre- or peri-pubertal gynecomastia, advanced bone age and compromised adult height. Case presentation Here we report an 8-year-old boy diagnosed with AEXS by chromosomal array that revealed a 1.1 Mb novel de novo duplication at 15q21.2, with a predicted final height of 157.4 cm. We prescribed letrozole and growth hormone (GH) to maximize his linear growth. Without further bone age advancement, his height increased from 137.7 cm to 144 cm after an 8-month treatment period. Conclusions We identified a novel duplication at 15q21.2 in AEXS, and found that aromatase inhibitor (AI) plus GH might provide a better growth-promoting approach for AEXS patients.


46, XX Disorders of Sex Development/genetics , 46, XX Disorders of Sex Development/pathology , Aromatase/genetics , Chromosomes, Human, Pair 15/genetics , Gene Duplication , Gynecomastia/genetics , Gynecomastia/pathology , Infertility, Male/genetics , Infertility, Male/pathology , Metabolism, Inborn Errors/genetics , Metabolism, Inborn Errors/pathology , 46, XX Disorders of Sex Development/drug therapy , Aromatase/chemistry , Aromatase Inhibitors/therapeutic use , Child , Gynecomastia/drug therapy , Humans , Infertility, Male/drug therapy , Male , Metabolism, Inborn Errors/drug therapy , Prognosis
17.
Breast J ; 24(6): 1043-1045, 2018 11.
Article En | MEDLINE | ID: mdl-30079473

BACKGROUND: Idiopathic gynecomastia is a benign breast disorder characterized by overdevelopment of male breast tissue. It can cause discomfort and concern, resulting in patients seeking diagnosis and treatment. We aimed to evaluate the efficacy of tamoxifen therapy in resolving this condition. METHODS: We undertook a prospective cohort study of all male patients who presented to our breast clinic, were diagnosed with primary gynecomastia, and were treated with a trial of tamoxifen 10 mg daily therapy, over a 10-year period from October 2004 to October 2015. All patients underwent routine investigations to exclude secondary causes of gynecomastia. The end point of interest was the complete resolution of gynecomastia. RESULTS: We included 81 patients in this study. The mean age was 42.8 years (SD 19.5 years). Of these, 28.4% were bilateral gynecomastia and 71.6% were unilateral. The majority (87.7%) of cases presented with accompanying mastalgia. Following treatment, 90.1% (n = 73) had a complete response of their gynecomastia with tamoxifen therapy. Only eight patients did not have a complete resolution following tamoxifen therapy, of which two underwent subsequent surgical resection of their symptomatic gynecomastia. CONCLUSION: Our study is the largest to date examining the role of tamoxifen in idiopathic gynecomastia, and our results show approximately nine in every 10 men treated with tamoxifen therapy had successful resolution of their symptoms. We support its use for idiopathic gynecomastia in eligible men following the careful discussion of its risks and benefits.


Gynecomastia/drug therapy , Tamoxifen/therapeutic use , Adult , Cohort Studies , Humans , Male , Middle Aged , Prospective Studies , Selective Estrogen Receptor Modulators/therapeutic use , Treatment Outcome
18.
J Pediatr Endocrinol Metab ; 31(10): 1149-1154, 2018 Oct 25.
Article En | MEDLINE | ID: mdl-30052520

Background Gynaecomastia, although rarely related to testicular tumours, in boys with Peutz-Jeghers syndrome (PJS) usually occurs due to large-cell calcifying Sertoli cell tumour (LCCSCT). Case presentation A 4-year-old boy, with a genetic diagnosis of PJS, presented gynaecomastia since the age of 2, associated with increased height velocity (HV). He exhibited bilateral breast enlargement (Tanner-B4) and a testicular volume of 4 mL. Testicular ultrasound revealed multifocal microcalcifications in both testicles. A laboratory evaluation showed undetectable gonadotrophins, testosterone and oestrogen and inhibin A of 4.6 pg/mL (0.9-1.7). The boy was subjected to therapy with anastrozole. In the last follow-up, 2 years after the start of therapy, he experienced a less tense Tanner-B2 and a decrease in HV; serum inhibin A had become negative. Conclusions This is one of the most precocious PJS-related gynaecomastia treated with aromatase inhibitors (AIs) reported in the literature. Oestrogen levels, although under the detection limit, may be sufficient to stimulate breast tissue/growth plates. Inhibin A is a good marker of LCCSCT and an indicator of response to AIs.


Anastrozole/therapeutic use , Aromatase Inhibitors/therapeutic use , Gynecomastia/drug therapy , Peutz-Jeghers Syndrome/complications , Child, Preschool , Gynecomastia/etiology , Humans , Male , Treatment Outcome
19.
J Clin Res Pediatr Endocrinol ; 9(2): 168-171, 2017 Jun 01.
Article En | MEDLINE | ID: mdl-27873740

Peutz-Jeghers syndrome (PJS) is inherited as an autosomal dominant trait characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large-cell calcifying Sertoli cell tumor (LCCSCT) is a kind of sex cord-stromal tumor which may co-exist with PJS and which is characterized radiologically by calcification foci within the testes. Surgical treatment options for this tumor range from testis-preserving surgery to radical orchiectomy. Not with standing this invasive approach, recently, there are some case reports demonstrating the efficacy of aromatase inhibitors in avoiding orchiectomy and its associated complications. In this paper, we have presented a LCCSCT case diagnosed in a boy with PJS and his response to anastrozole treatment.


Nitriles/therapeutic use , Peutz-Jeghers Syndrome/drug therapy , Sertoli Cell Tumor/drug therapy , Testicular Neoplasms/drug therapy , Triazoles/therapeutic use , Anastrozole , Aromatase Inhibitors/therapeutic use , Child , Gynecomastia/complications , Gynecomastia/drug therapy , Humans , Male , Peutz-Jeghers Syndrome/complications , Sertoli Cell Tumor/complications , Testicular Neoplasms/complications , Treatment Outcome
20.
Bone ; 93: 181-186, 2016 12.
Article En | MEDLINE | ID: mdl-27693882

OBJECTIVE: Aromatase, or CYP19A1, is a type II cytochrome CYP450 enzyme that catalyzes the conversion of C19 androgens to C18 estrogens. Its crucial role in both female and male physiology has been deduced from human and animal studies using aromatase inhibitors, genetically altered mice, and patients with aromatase deficiency. The latter is an extremely rare disorder. Its diagnosis is particularly difficult in males, who go through puberty normally and therefore usually present as adults with elevated testosterone, bone abnormalities (e.g., delayed bone age and low bone mass), and metabolic syndrome. In this report, we describe a new case of a male patient with aromatase deficiency harboring a known mutation who presented with less severe clinical and biochemical features. CASE REPORT: The patient presented with low bone mass and delayed bone age after a finger fracture at age 25years. FSH, LH and testosterone levels were normal, but estradiol and estrone levels were absent or barely detectable, raising suspicion for aromatase deficiency. A homozygous c.628G>A mutation in exon 5 was confirmed by direct sequencing. Unlike previously reported cases of aromatase deficiency, he did not display biochemical features of insulin resistance, dyslipidemia, or overweight/obese status. Therapy with estradiol led to the closure of growth plates and a dramatic increase in bone mass. CONCLUSIONS: Here we explore genotype/phenotype associations of this new case compared to cases reported previously. We conclude that the specific nature of mutation c.628G>A, which can potentially result in several different forms of the aromatase enzyme, may lend an explanation to the variable phenotypes associated with this particular genotype.


46, XX Disorders of Sex Development/pathology , Aromatase/deficiency , Gynecomastia/pathology , Infertility, Male/pathology , Metabolism, Inborn Errors/pathology , 46, XX Disorders of Sex Development/blood , 46, XX Disorders of Sex Development/drug therapy , Adolescent , Adult , Age Determination by Skeleton , Aromatase/blood , Estradiol/blood , Estradiol/pharmacology , Estradiol/therapeutic use , Fractures, Bone/diagnostic imaging , Fractures, Bone/drug therapy , Fractures, Bone/pathology , Gynecomastia/blood , Gynecomastia/drug therapy , Humans , Infertility, Male/blood , Infertility, Male/drug therapy , Male , Metabolism, Inborn Errors/blood , Metabolism, Inborn Errors/drug therapy , Testosterone/blood , Time Factors
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