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Endocrine Reviews Sep 2022Delayed puberty (DP) defines a retardation of onset/progression of sexual maturation beyond the expected age from either a lack/delay of the... (Review)
Review
Delayed puberty (DP) defines a retardation of onset/progression of sexual maturation beyond the expected age from either a lack/delay of the hypothalamo-pituitary-gonadal axis activation or a gonadal failure. DP usually gives rise to concern and uncertainty in patients and their families, potentially affecting their immediate psychosocial well-being and also creating longer term psychosexual sequelae. The most frequent form of DP in younger teenagers is self-limiting and may not need any intervention. Conversely, DP from hypogonadism requires prompt and specific treatment that we summarize in this review. Hormone therapy primarily targets genital maturation, development of secondary sexual characteristics, and the achievement of target height in line with genetic potential, but other key standards of care include body composition and bone mass. Finally, pubertal induction should promote psychosexual development and mitigate both short- and long-term impairments comprising low self-esteem, social withdrawal, depression, and psychosexual difficulties. Different therapeutic options for pubertal induction have been described for both males and females, but we lack the necessary larger randomized trials to define the best approaches for both sexes. We provide an in-depth and updated literature review regarding therapeutic options for inducing puberty in males and females, particularly focusing on recent therapeutic refinements that better encompass the heterogeneity of this population, and underlining key differences in therapeutic timing and goals. We also highlight persistent shortcomings in clinical practice, wherein strategies directed at "the child with delayed puberty of uncertain etiology" risk being misapplied to older adolescents likely to have permanent hypogonadism.
Topics: Adolescent; Child; Female; Gonadotropins; Humans; Hypogonadism; Male; Puberty; Puberty, Delayed; Testosterone
PubMed: 34864951
DOI: 10.1210/endrev/bnab043 -
Best Practice & Research. Clinical... Jun 2019The term primary gonadal failure encompasses not only testicular insufficiency in 46,XY males and ovarian insufficiency in 46,XX females, but also those disorders of sex... (Review)
Review
The term primary gonadal failure encompasses not only testicular insufficiency in 46,XY males and ovarian insufficiency in 46,XX females, but also those disorders of sex development (DSD) which result in gender assignment that is at variance with the genotype and gonadal type. In boys, causes of gonadal failure include Klinefelter and other aneuploidy syndromes, bilateral cryptorchidism, testicular torsion, and forms of 46,XY DSD such as partial androgen insensitivity. Causes in girls include Turner syndrome and other aneuploidies, galactosemia, and autoimmune ovarian failure. Iatrogenic causes in both boys and girls include the late effects of childhood cancer treatment, total body irradiation prior to bone marrow transplantation, and iron overload in transfusion-dependent thalassaemia. In this paper, a brief description of the physiology of testicular and ovarian development is followed by a section on the causes and practical management of gonadal impairment in boys and girls. Protocols for pubertal induction and post-pubertal hormone replacement - intramuscular, oral and transdermal testosterone in boys; oral and transdermal oestrogen in girls - are then given. Finally, current and future strategies for assisted conception and fertility preservation are discussed.
Topics: Androgen-Insensitivity Syndrome; Child; Disorders of Sex Development; Female; Fertility Preservation; Humans; Male; Primary Ovarian Insufficiency
PubMed: 31327696
DOI: 10.1016/j.beem.2019.101295 -
Future Oncology (London, England) Jun 2022To develop a predictive model for ovarian failure (OF) after chemotherapy in young post-pubertal women with cancer. Retrospective, monocentric cohort study including...
To develop a predictive model for ovarian failure (OF) after chemotherapy in young post-pubertal women with cancer. Retrospective, monocentric cohort study including 348 patients referring to the Oncofertility Unit of San Raffaele Hospital (Milan, Italy) from August 2011 to January 2020. A predictive model was constructed by multivariate logistic regression and receiver operating characteristic analysis. Data about menstrual function resumption were available for 184 patients. The best predictive model for OF was identified by the combination of age; number of chemotherapy lines; vincristine, adriamycin, ifosphamide/adriamycin, ifosphamide; capecitabine; adriamycin, bleomycine, vinblastine, doxorubicin (area under the curve = 0.906; CI 95% 0.858-0.954; p = 0.0001). The model predicts the probability of loss of ovarian function at cancer diagnosis and with every change of treatment.
Topics: Cohort Studies; Doxorubicin; Female; Fertility Preservation; Humans; Neoplasms; Prognosis; Retrospective Studies
PubMed: 35469452
DOI: 10.2217/fon-2022-0078 -
Indian Journal of Pediatrics Oct 2023Enlargement of breasts among boys is termed gynecomastia. This could be due to an alteration in the androgen-estrogen ratio along with the effects of other hormones... (Review)
Review
Enlargement of breasts among boys is termed gynecomastia. This could be due to an alteration in the androgen-estrogen ratio along with the effects of other hormones including growth hormone, insulin like growth factor 1, prolactin, and other factors affecting aromatase enzyme. The common causes of gynecomastia are pubertal gynecomastia, obesity, drugs and hypogonadism. Several other diseases including liver or renal failure, thyrotoxicosis, Klinefelter syndrome, tumors and environmental pollutants can cause gynecomastia. History and clinical examination will help formulate targeted investigations and management. The factors to be evaluated in these include examination of breasts and testes, in addition to other parts of systemic examination. Treatment of underlying disorders can improve gynecomastia, such as use of testosterone in hypogonadism. Some boys may not need any intervention as gynecomastia may resolve on its own. Medical management is useful in simple gynecomastia. Tamoxifen has been tried successfully in adolescents with gynecomastia. Other drugs including clomiphene, danazol, letrozole and anastrozole have not been consistently useful in this age group. In severe chronic gynecomastia, surgery is the treatment of choice.
Topics: Adolescent; Male; Humans; Gynecomastia; Hypertrophy; Tamoxifen; Growth Hormone; Hypogonadism
PubMed: 37592101
DOI: 10.1007/s12098-023-04810-7 -
Sports Medicine (Auckland, N.Z.) Sep 2013Short stature and later maturation of youth artistic gymnasts are often attributed to the effects of intensive training from a young age. Given limitations of available... (Review)
Review
Short stature and later maturation of youth artistic gymnasts are often attributed to the effects of intensive training from a young age. Given limitations of available data, inadequate specification of training, failure to consider other factors affecting growth and maturation, and failure to address epidemiological criteria for causality, it has not been possible thus far to establish cause-effect relationships between training and the growth and maturation of young artistic gymnasts. In response to this ongoing debate, the Scientific Commission of the International Gymnastics Federation (FIG) convened a committee to review the current literature and address four questions: (1) Is there a negative effect of training on attained adult stature? (2) Is there a negative effect of training on growth of body segments? (3) Does training attenuate pubertal growth and maturation, specifically, the rate of growth and/or the timing and tempo of maturation? (4) Does training negatively influence the endocrine system, specifically hormones related to growth and pubertal maturation? The basic information for the review was derived from the active involvement of committee members in research on normal variation and clinical aspects of growth and maturation, and on the growth and maturation of artistic gymnasts and other youth athletes. The committee was thus thoroughly familiar with the literature on growth and maturation in general and of gymnasts and young athletes. Relevant data were more available for females than males. Youth who persisted in the sport were a highly select sample, who tended to be shorter for chronological age but who had appropriate weight-for-height. Data for secondary sex characteristics, skeletal age and age at peak height velocity indicated later maturation, but the maturity status of gymnasts overlapped the normal range of variability observed in the general population. Gymnasts as a group demonstrated a pattern of growth and maturation similar to that observed among short-, normal-, late-maturing individuals who were not athletes. Evidence for endocrine changes in gymnasts was inadequate for inferences relative to potential training effects. Allowing for noted limitations, the following conclusions were deemed acceptable: (1) Adult height or near adult height of female and male artistic gymnasts is not compromised by intensive gymnastics training. (2) Gymnastics training does not appear to attenuate growth of upper (sitting height) or lower (legs) body segment lengths. (3) Gymnastics training does not appear to attenuate pubertal growth and maturation, neither rate of growth nor the timing and tempo of the growth spurt. (4) Available data are inadequate to address the issue of intensive gymnastics training and alterations within the endocrine system.
Topics: Adolescent; Adolescent Development; Body Height; Body Weight; Child; Child Development; Female; Gymnastics; Hormones; Humans; Lower Extremity; Male; Nutritional Status; Physical Conditioning, Human; Physical Exertion; Puberty; Sexual Maturation; Torso
PubMed: 23743792
DOI: 10.1007/s40279-013-0058-5 -
Current Opinion in HIV and AIDS May 2018We present an overview of recent research in the inter-related areas of growth and pubertal development among adolescents with HIV. Growth deficits early in childhood... (Review)
Review
PURPOSE OF REVIEW
We present an overview of recent research in the inter-related areas of growth and pubertal development among adolescents with HIV. Growth deficits early in childhood can lead to delayed puberty, with subsequent effects on pubertal growth spurts and bone health.
RECENT FINDINGS
Impaired growth remains a critical concern, particularly in low-resource settings, where stunting, wasting and underweight remain pervasive. Antiretroviral treatment (ART) initiation results in improved growth, with greatest growth recovery in the first years and more improvement in weight than in height. However, even years after ART initiation, growth deficits persist in low-resource settings (LRS), and adolescents appear at particularly increased risk. The high prevalence of stunting translates to delays in pubertal onset and sexual maturity. In contrast, HIV-infected adolescents in developed countries do not demonstrate persistent wasting, yet still have delayed pubertal development. Impaired growth increases the risk for mortality, virologic failure, and abnormal bone health, as well as increased depression and stigma.
SUMMARY
Early initiation of ART across all age groups regardless of immunological status is essential for restoring growth. Coordination of ART initiation, nutritional supplementation programs, and concurrent prophylaxis is required to ameliorate growth deficits and pubertal delays, particularly in LRS.
Topics: Adolescent; Adolescent Development; Adolescent Health; Anti-HIV Agents; HIV; HIV Infections; Humans; Puberty
PubMed: 29432228
DOI: 10.1097/COH.0000000000000450 -
Pediatric Nephrology (Berlin, Germany) Jun 2017Impairment of pubertal growth and sexual maturation resulting in reduced adult height is an significant complication in children suffering from chronic kidney disease... (Review)
Review
Impairment of pubertal growth and sexual maturation resulting in reduced adult height is an significant complication in children suffering from chronic kidney disease (CKD). Delayed puberty and reduced pubertal growth are most pronounced in children with pre-existing severe stunting before puberty, requiring long-term dialysis treatment, and in transplanted children with poor graft function and high glucocorticoid exposure. In pre-dialysis patients, therapeutic measures to improve pubertal growth are limited and mainly based on the preservation of renal function and the use of growth hormone treatment. In patients with end-stage CKD, early kidney transplantation with steroid withdrawal within 6 months of renal transplantation allows for normal pubertal development in the majority of patients. This review focuses on the underlying pathophysiology and strategies for improving height and development in these patients.
Topics: Adolescent; Adult; Body Height; Child; Female; Glucocorticoids; Graft Rejection; Growth Disorders; Human Growth Hormone; Humans; Kidney Failure, Chronic; Kidney Transplantation; Male; Puberty, Delayed; Renal Dialysis; Sex Factors; Sexual Maturation; Testosterone; Young Adult
PubMed: 27464647
DOI: 10.1007/s00467-016-3432-3 -
Indian Pediatrics Jul 2021To assess pubertal development and its determinants in adolescents with transfusion-dependent thalassemia (TDT).
OBJECTIVES
To assess pubertal development and its determinants in adolescents with transfusion-dependent thalassemia (TDT).
METHODS
In this cross-sectional study from a tertiary teaching hospital in Delhi, records of adolescents aged 17-19 years with TDT on regular transfusion at thalassemia day-care centre were reviewed. Pubertal development and its determinants were assessed.
RESULTS
Records of 58 (33 male) adolescents with TDT were reviewed. Among them, 42 (72.4%) had normal/delayed onset with spontaneous progression of puberty, while 16 (27.6%) had pubertal arrest/failure and received hormonal replacement therapy (HRT). Short stature was observed in all adolescents on HRT. Amongst other endocrinopathies, only hypoparathyroidism was found to be significantly higher in the HRT group. On multivariate analysis, serum ferritin (OR-1.005, 95% CI 1.002, 1.009) was observed to be the only significant determinant of pubertal arrest/failure.
CONCLUSIONS
A significant proportion of adolescents with TDT continue to have pubertal arrest/failure. High systemic iron load is the key determinant for this.
Topics: Adolescent; Blood Transfusion; Cross-Sectional Studies; Endocrine System Diseases; Humans; Male; Puberty; Thalassemia; beta-Thalassemia
PubMed: 33772533
DOI: No ID Found -
Orphanet Journal of Rare Diseases Apr 2006Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles before the... (Review)
Review
Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles before the age of 40 years (secondary amenorrhea). It is a heterogeneous disorder affecting approximately 1% of women <40 years, 1:10,000 women by age 20 and 1:1,000 women by age 30. The most severe forms present with absent pubertal development and primary amenorrhea (50% of these cases due to ovarian dysgenesis), whereas forms with post-pubertal onset are characterized by disappearance of menstrual cycles (secondary amenorrhea) associated with premature follicular depletion. As in the case of physiological menopause, POF presents by typical manifestations of climacterium: infertility associated with palpitations, heat intolerance, flushes, anxiety, depression, fatigue. POF is biochemically characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (LH and FSH) (hypergonadotropic amenorrhea). Beyond infertility, hormone defects may cause severe neurological, metabolic or cardiovascular consequences and lead to the early onset of osteoporosis. Heterogeneity of POF is also reflected by the variety of possible causes, including autoimmunity, toxics, drugs, as well as genetic defects. POF has a strong genetic component. X chromosome abnormalities (e.g. Turner syndrome) represent the major cause of primary amenorrhea associated with ovarian dysgenesis. Despite the description of several candidate genes, the cause of POF remains undetermined in the vast majority of the cases. Management includes substitution of the hormone defect by estrogen/progestin preparations. The only solution presently available for the fertility defect in women with absent follicular reserve is ovum donation.
Topics: Adult; Amenorrhea; Chromosomes, Human, X; Female; Gonadal Hormones; Gonadotropins; Humans; Primary Ovarian Insufficiency; Sex Chromosome Aberrations
PubMed: 16722528
DOI: 10.1186/1750-1172-1-9 -
Advances in Renal Replacement Therapy Oct 1999Puberty is a period of transition characterized by a sequence of profound physical and psychological changes leading to full sexual maturity. This process is driven and... (Review)
Review
Puberty is a period of transition characterized by a sequence of profound physical and psychological changes leading to full sexual maturity. This process is driven and orchestrated by the awakening of the gonadotropic hormone axis. Chronic renal failure and its treatment may interfere with the onset and progress of puberty by numerous mechanisms including endocrine, metabolic and neuropsychological abnormalities, and drug effects. On average, the onset of puberty is delayed by 2 years in children with chronic renal failure, even after successful transplantation. Moreover, pubertal height gain is only 50% of that observed in healthy children. In this report, we discuss the endocrine mechanisms underlying these alterations and highlight new therapeutical options for pubertal growth failure.
Topics: Female; Humans; Kidney Failure, Chronic; Male; Puberty
PubMed: 10543713
DOI: 10.1016/s1073-4449(99)70044-0