Gynecomastia in children

RATIONALE: Sex cord-stromal tumors (SCST) are hormonally active and rare. The aim was to describe their endocrinological presentation and outcomes. METHOD: Patients (< 19 years) registered in the TGM13 registry between 2014 and 2021 for SCST were selected. RESULTS: Sixty-three ovarian SCST (juvenile granulosa tumor (JGT) n = 34, Sertoli-Leydig cell tumor (SLCT) n = 17, other SCST n = 12) were included...

INTRODUCTION: There are scarce papers about the use of fluorescence-guided surgery (FGS) in the open surgical field. This study aimed to assess the usefulness of FGS in an open setting in the pediatric population and to report our preliminary experience using the Rubina® Lens system. METHODS: All patients undergoing ICG fluorescence-assisted open surgery over the period September 2022-September 2023 were enrolled. Each surgical procedure was performed using the Rubina® Lens for ICG fluorescence visualization...

BACKGROUND: Indocyanine green fluorescence technology (ICG) in pediatric minimally invasive surgery has undergone an important improvement in the last 5 years. However, its use in open surgery is still limited. In this paper, we aim to report our preliminary experience with Rubina® lens ICG fluorescence technology in combination with the IMAGE1 S™ system from KARL STORZ in open excision of masses in children. METHODS: The records of 18 patients undergoing open surgery for head, neck and thorax masses between September and November 2022 were retrospectively reviewed...

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Klinefelter syndrome (KS), caused by the presence of an extra X chromosome, is the most prevalent chromosomal sexual anomaly, with an estimated incidence of 1:500/1000 per male live birth (karyotype 47,XXY). High stature, tiny testicles, small penis, gynecomastia, feminine body proportions and hair, visceral obesity, and testicular failure are all symptoms of KS. Endocrine (osteoporosis, obesity, diabetes), musculoskeletal, cardiovascular, autoimmune disorders, cancer, neurocognitive disabilities, and infertility are also outcomes of KS...

OBJECTIVE: Although these agents are used frequently, prospective data comparing serotonin/dopamine antagonists/partial agonists (SDAs) in youth regarding prolactin levels and sexual adverse effects (SeAEs) are scarce. METHOD: Youth aged 4 to 17 years, SDA-naive (≤1 week exposure) or SDA-free for ≥4 weeks were followed for ≤12 weeks on clinician's-choice aripiprazole, olanzapine, quetiapine, or risperidone. Serum prolactin levels, SDA plasma levels, and rating scale-based SeAEs were assessed monthly...

Idiopathic hypogonadotropic hypogonadism (IHH) occurs mostly in childhood or adolescence and very rarely in adulthood. It is characterised by delayed onset of secondary sexual characteristics. Many genetic abnormalities have been reported in congenital IHH cases, but rarely in adult-onset IHH cases. IHH requires lifelong hormone replacement therapy; however, a few reports suggest the reversibility of this condition.In this case, after having his first child, a man in his 20s was diagnosed with gynecomastia followed by IHH...

BACKGROUND: SRD5A2 deficiency leads to incomplete masculinization of individuals with a 46 XY karyotype. A definitive diagnosis in early infancy facilitates decisions concerning choice of sex of rearing and management. AIM: To review the clinical presentation, diagnosis, treatment and outcome of children with 46 XY DSD due to SRD5A2 deficiency at a Paediatric Gender Clinic. STUDY DESIGN AND METHODS: Retrospective review of cases of SRD5A2 deficiency (2000-15) managed with a standard protocol at a multidisciplinary clinic...

BACKGROUND: Lavender essential oil and tea tree essential oil have become popular ingredients in personal care and household products in recent decades. Questions regarding the safety of these oils in pediatric populations have been raised, proposing a link between these essential oils and endocrine disruption in children, specifically prepubertal gynecomastia. To date, no epidemiological studies have been conducted to evaluate this proposed link. METHODS: This is a cross sectional study conducted among parents of children in the United States to identify the prevalence of endocrine disruption in children aged 2-15 years old...

Leydig cell tumors, most often benign, are a rare cause of isosexual gonadotropin-independent precocious puberty in boys due to secretion of testosterone. Very rarely do these tumors produce estrogen, causing gynecomastia. Testicular sparing surgery is the mainstay of treatment currently although radical orchidectomy was the choice in the past. Following surgery, clinical signs improve along with a revision of biochemical changes. Occasionally, it has been reported few children are progressed to gonadotropin-dependent precocious puberty (GDPP) after initial clinical and biochemical recovery...

BACKGROUND: The goal of the treatment of Alport syndrome (AS) is to delay the progression of kidney damage. The current standard of care is the use of Renin Angiotensin Aldosterone System (RAAS) blockers: angiotensin-converting enzyme inhibition (ACEi), angiotensin receptor blockade, and, recently, spironolactone (SP). AIM OF THE STUDY: the purpose of this retrospective study is to evaluate the efficacy (reduction of proteinuria and changes of glomerular function) and safety of a sequential introduction of RAAS blockers up to a triple RAAS blockade in pediatric proteinuric patients with AS...

This study describes the clinical, biochemical, and molecular characteristics of Indian children with 46,XY DSD and suspected androgen insensitivity syndrome (AIS). Fifty children (median age 3.0 years, range 0-16.5 years) with 46,XY DSD and a suspected diagnosis of AIS were enrolled. Sanger sequencing was performed to identify pathogenic variants in the androgen receptor (AR) gene and to study genotype-phenotype correlations. All 5 (100%) patients with CAIS and 14/45 (31%) patients with PAIS had pathogenic/likely pathogenic variants in the AR gene (overall, 14 different variants in 19 patients; 38...

Despite the pivotal role of mitotane in adrenocortical carcinoma (ACC) management, data on the endocrine toxicities of this treatment are lacking. The aim of this systematic review is to collect the available evidence on the side effects of mitotane on the endocrine and metabolic systems in both children and adults affected by adrenal carcinoma. Sixteen articles on 493 patients were included. Among the adrenal insufficiency, which is an expected side effect of mitotane, 24.5% of patients increased glucocorticoid replacement therapy...

BACKGROUND: LT is the standard of care for many pediatric liver disorders. Although long-term outcomes have improved, some rare complications such as transmission of occult donor tumors have been reported. CASE REPORT: An adolescent diagnosed with tyrosinemia was submitted to LT from a previous healthy donor due to HCC. Almost 8 months after LT, the patient presented a nodular hepatic lesion. Clinically, he had mild weight loss, lower limb edema, and gynecomastia...

Objective: Estrogen-secreting adrenocortical tumors (ACTs) are quite rare with feminizing adrenocortical tumors (FATs) accounting for 0.37-2% of all ACTs. The aim was to evaluate clinical and hormonal characteristics of FATS as well as treatment options and follow-up in the pediatric age group. Methods: Medical records of children with ACTs presenting to a single center in the last two decades were reviewed. Literature review within Pubmed revealed 34 pediatric patients (22 boys) with FAT among 192 articles...

Breast tissue undergoes a series of changes from birth to puberty. The majority of the changes are transient, related to physiological hormonal changes. Although the breast is identical in both sexes at birth, its histology and development will eventually differ. It is important for radiologists to have a basic understanding of endocrinological changes and appearance on imaging to avoid potential pitfalls, particularly on ultrasound, which is the primary modality used to evaluate the breast.

Gynaecomastia in adolescents is a benign glandular proliferation of the male breast. Secondary causes of gynaecomastia in adolescents are relatively rare and may result from a wide variety of rare pathological conditions. Among these, klinefelter syndrome, complete androgen resistance, adrenal tumours and oestrogen-secreting testicular tumours, hypogonadism, hyperthyroidism, kidney disease and medications play a role in aetiology. The aim of our study is to review the demographic characteristics, hormone profile, aetiological characteristics of paediatric gynaecomastia patients admitted to a single center and to determine the frequency of pathological gynaecomastia...

BACKGROUND/PURPOSE: Breast masses in the pediatric population cause patient and family concern, partially driven by public awareness of adult breast cancer. However, the spectrum of breast masses in children differs greatly from that in adults, and malignancy is exceedingly rare. The American College of Radiology Breast Imaging Reporting and Data System (BI-RADS) ultrasound-based classification system is the diagnostic standard, yet no study has validated BI-RADS in pediatric patients...

Aromatase excess syndrome (SIA) is a rare autosomal dominant disease caused by increased extraglandular conversion of androgens to estrogens. SIA is characterizedby early gonadotropin-independent hyperestrogenemia, causing pre-pubertal gynecomastia in boys and premature isosexual development in girls. Adults patients have short stature, due to the early closure of epiphyses because of hyperestrogenemia. Women usually have macromastia, endometrial hyperplastic processes and the late onset of menopause. In men, there is a moderate decrease of gonadotropins, leading to secondary hypogonadism...

Background: Although aripiprazole and risperidone are used widespread in pediatrics, there are still limited pieces of evidence on their actual safety profile. By using the EudraVigilance database, we carried out an analysis to perform a comprehensive overview of reported adverse events among children and adolescents treated with aripiprazole and risperidone. Methods: Descriptive analysis was performed of all individual case safety reports (ISCRs) submitted to EudraVigilance associated with aripiprazole and risperidone and related to the pediatric population from 2016 to 2018...