- Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2. [Case Reports]
- JPJ Pediatr Endocrinol Metab 2018 Dec 11
- 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, advance...
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.
- The coexistence of Cushing syndrome and gynecomastia as the manifestations of adrenocortical carcinoma. [Letter]
- KJKaohsiung J Med Sci 2018; 34(12):705-706
- Developmental disorders and malformations of the breast. [Review]
- SDSemin Diagn Pathol 2018 Nov 17
- Developmental abnormalities and malformations of the breast are rare and encompass a variety of genetic, syndromic, acquired and sporadic conditions. Abnormalities in development may include irregula...
Developmental abnormalities and malformations of the breast are rare and encompass a variety of genetic, syndromic, acquired and sporadic conditions. Abnormalities in development may include irregularities in the nipple areolar complex and/or the underlying glandular tissue, resulting in under or overdevelopment of breasts. Age of presentation and clinical severity is dependent on the underlying biologic cause. Abnormalities may involve the entirety of unilateral or bilateral breasts, particularly in association with syndromic conditions or endocrine abnormalities. Disordered development may also be focal, resulting in tumor-like lesions such as hamartomas, pseudoangiomatous stromal hyperplasia and gynecomastia. In this review, we discuss the disorders of breast development including etiologies, clinical presentations and corresponding histopathologic features.
- Incidental 18F-NaF Uptake in Drug-Induced Gynecomastia. [Journal Article]
- CNClin Nucl Med 2018 Dec 03
- Gynecomastia is not uncommon in men older than 50 years of age and is characterized by glandular proliferation of breast tissue. Non-physiologic gynecomastia is mostly caused by a variety of external...
Gynecomastia is not uncommon in men older than 50 years of age and is characterized by glandular proliferation of breast tissue. Non-physiologic gynecomastia is mostly caused by a variety of external medical interventions. Medications that belong to classes of antiandrogens, antipsychotics, or antibiotics alter the levels of estrogen and testosterone and are commonly implicated in patients with gynecomastia. We are presenting a case of bilateral F-NaF uptake in the breast tissue of a 56-year-old man with known history of prostate cancer.
- Evaluation of Glandular Liposculpture as a Single Treatment for Grades I and II Gynecomastia. [Letter]
- APAesthetic Plast Surg 2018 Nov 27
- Safety and cardiovascular efficacy of spironolactone in dialysis-dependent ESRD (SPin-D): a randomized, placebo-controlled, multiple dosage trial. [Journal Article]
- KIKidney Int 2018 Nov 22
- The safety and efficacy of spironolactone is uncertain in end-stage renal disease. We randomized 129 maintenance hemodialysis patients to placebo (n=51) or spironolactone 12.5 mg (n=27), 25 mg (n=26)...
The safety and efficacy of spironolactone is uncertain in end-stage renal disease. We randomized 129 maintenance hemodialysis patients to placebo (n=51) or spironolactone 12.5 mg (n=27), 25 mg (n=26), or 50 mg (n=25) daily for 36 weeks in a double-blind, placebo-controlled, multiple dosage trial to assess safety, tolerability and feasibility and to explore cardiovascular efficacy. The primary safety endpoints were hyperkalemia (potassium > 6.5 mEq/L) and hypotension requiring emergency department visit or hospitalization. Diastolic function was assessed by Doppler echocardiography. 125 participants (97%) completed dose escalation, with no significant difference in permanent study drug discontinuation between the groups (27.5% in placebo versus 16.7% in the combined spironolactone groups and 28% in the 50 mg group). Hyperkalemia frequency was similar between spironolactone and placebo (0.49 versus 0.50 events per patient-year) but demonstrated a significant linear trend due primarily to an increased event rate at the 50 mg dose (0.89 events per patient-year). The primary hypotension outcome was infrequent and similar with spironolactone and placebo (0.11 versus 0 events per patient-year). Gynecomastia was rare and did not differ significantly between groups. Change in diastolic function was similar with spironolactone and placebo. Spironolactone appears safe in carefully monitored maintenance hemodialysis patients, but did not affect cardiovascular parameters in this small study. Hyperkalemia occurs more frequently as dosage increases to 50 mg daily.
- Health consequences of androgenic anabolic steroid use. [Journal Article]
- JIJ Intern Med 2018 Nov 20
- CONCLUSIONS: Androgenic anabolic steroid users have an increased risk of dying and significantly more hospital admissions than their nonuser peers. Side effects of AAS and their metabolites were highly prevalent. Given the high rate of androgenic anabolic steroid abuse, these side effects are of public health concern.
- Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome. [Journal Article]
- JPJ Pediatr Endocrinol Metab 2018 Dec 19; 31(12):1381-1386
- Background Peutz-Jeghers syndrome (PJS) is characterized by gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. Patients with PJS can develop large calcifying Sertoli ce...
Background Peutz-Jeghers syndrome (PJS) is characterized by gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. Patients with PJS can develop large calcifying Sertoli cell tumors (LCSTs). Case presentation A patient presented at 3 years of age with delayed development, hypermobility and later also with tall stature and advanced bone age. Extensive endocrine evaluation, mutation analysis of genes associated with connective tissue disorders and a single nucleotide polymorphism (SNP) array showed no abnormalities. At 8 years of age, gynecomastia developed as well as pigmentations on the lips, both of which are associated with PJS. Mutation analysis showed a heterozygous deletion of the whole STK11 gene confirming PJS. Testicular ultrasound confirmed the presence of LCSTs. Interestingly, the previously performed SNP array did not report deletion of the STK11 gene. Conclusions We advise excluding LCSTs in children with tall stature and advanced bone age where more common causes have been eliminated. Although STK11 deletions are documented in control databases, reporting the deletion of this gene even in the absence of a phenotype is advised for patient management.
- Aberrant axillary breast tissue with pseudoangiomatous stromal hyperplasia in a man. [Journal Article]
- CPCesk Patol 2018; 54(3):143-146
- Diagnosing accessory breast tissue in a male patient is difficult when the condition is unilateral, and there is no areola or nipple. Pseudoangiomatous hyperplasia of the mammary stroma is an uncommo...
Diagnosing accessory breast tissue in a male patient is difficult when the condition is unilateral, and there is no areola or nipple. Pseudoangiomatous hyperplasia of the mammary stroma is an uncommon benign mesenchymal proliferation that may mimic low-grade angiosarcoma. We report herein an example of tumoriform pseudoangiomatous hyperplasia of the stroma arising in the accessory breast tissue of a 38-year-old man. The condition presented as a palpable tender axillary mass. Histopathologically, there were no changes of gynecomastia. Only two cases of pseudoangiomatous hyperplasia of the stroma have been previously reported in the accessory breast tissue of men showing unilateral or bilateral gynecomastia. Our case is the first report without associated gynecomastia. Radiologic imaging features are not sufficiently specific to enable a prospective diagnosis of pseudoangiomatous hyperplasia of the stroma. Microscopic examination of the lesion is indispensable in making a definitive diagnosis. Awareness of the condition can avoid difficulty in diagnosing it. Aberrant breast tissue with mass-forming pseudoangiomatous hyperplasia of the stroma, whilst rare, should be included among the benign proliferative mesenchymal lesions of the axilla. Keywords: aberrant breast tissue-accessory breast tissue-pseudoangiomatous stromal hyperplasia-gynecomastia-angiosarcoma-axilla.
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- The Ascent of Mineralocorticoid Receptor Antagonists in Diabetic Nephropathy. [Journal Article]
- CCCurr Clin Pharmacol 2018 Nov 15
- Diabetic nephropathy (DN) is defined as a decline in the renal function and an increase in the amount of albuminuria (>300 mg/day). The well-established first-line drug therapies for DN include angio...
Diabetic nephropathy (DN) is defined as a decline in the renal function and an increase in the amount of albuminuria (>300 mg/day). The well-established first-line drug therapies for DN include angiotensin-converting enzyme inhibitor (ACEi) and angiotensin receptor blockers (ARBs) and the second line drug therapies include calcium channel blockers or diuretics. The interruption of the renin-angiotensin-aldosterone system (RAAS) by ACEi and ARBs has been beneficial in reducing the progression of renal diseases; however, there is an increase in the levels of aldosterone due to the aldosterone escape phenomenon. Newer and novel approaches to counteract this aldosterone breakthrough while accentuating the anti-hypertensive and anti-proteinuric effects of these agents would be ideal and mineralocorticoid receptor antagonists (MRAs) fit in this slot perfectly. This review attempted to evaluate the safety and efficacy of MRAs for DN. Presently MRAs such as spironolactone, eplerenone and finerenone are being investigated as both monotherapies and as an additional therapy. Clinical studies have shown that these drugs have been effective in the reduction of blood pressure (BP), urinary-albumin-excretion (UAE) and estimated glomerular filtration rate (eGFR). The adverse effects of hyperkalaemia, gynaecomastia and vaginal bleeding that are bothersome with spironolactone seem to be avoidable if these patients are switched over to non-steroidal MRAs such as finerenone and eplerenone. Most of the studies have only evaluated the short-term effects of MRAs on DN. Hard outcomes such as cardiovascular events, creatinine doubling, progression to ESRD, mortality, and need for temporary or permanent dialysis needs to be studied with these molecules.