New and consolidated therapeutic options for pubertal induction in hypogonadism: in-depth review of the literature

2021 ◽  
Author(s):  
Silvia Federici ◽  
Giovanni Goggi ◽  
Richard Quinton ◽  
Luca Giovanelli ◽  
Luca Persani ◽  
...  
Keyword(s):  
Social Withdrawal ◽  
Specific Treatment ◽  
Well Being ◽  
Therapeutic Options ◽  
Standards Of Care ◽  
Delayed Puberty ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Short And Long Term ◽  
Males And Females

Abstract Delayed puberty (DP) defines a retardation of onset/progression of sexual maturation beyond the expected age due to either a lack/delay of the hypothalamo-pituitary-gonadal (HPG) 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 due to 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 aetiology” risk being misapplied to older adolescents likely to have permanent hypogonadism.

scholarly journals Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature

2021 ◽  
Author(s):  
Alise Jakovleva ◽  
Zanna Kovalova
Keyword(s):  
Median Time ◽  
Gonadal Dysgenesis ◽  
Additional Patient ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Swyer Syndrome ◽  
Complete Gonadal Dysgenesis ◽  
Secondary Sexual

Background and aim. Complete gonadal dysgenesis or Swyer syndrome is a rare genetic disorder characterized by 46,XY karyotype and female phenotype with undeveloped streak gonads and high malignancy risk. The condition usually manifests in teenage and young adults with delayed puberty and primary amenorrhea. The purpose of this study was to investigate the incidence and potential malignant outcomes of complete gonadal dysgenesis in Latvia. Methods. 37 patients were included in a retrospective study from 1996 to 2016.  In fifteen cases, additional patient information was available. Information from medical records was collected on age at the time of diagnosis: anamnesis data, laboratory results, histology of gonads, and treatment. Results. Complete gonadal dysgenesis with karyotype 46,XY was proven in 36 (97.3%) cases and one (2.7%) case with karyotype 47,XY,+21. The average age of patients at the time of diagnosis was 15.4 ± 8.0 years. The study included 15 cases: eight patients (53.3%) were investigated for primary amenorrhea, and incomplete development of secondary sexual characteristics, 5 patients (33.3%) with abdominal pain and lower abdominal mass, 2 patients (13.3%) were diagnosed at birth. Gonadectomy was performed in 12 cases (80%). The median time between diagnosis and gonadectomy was 0.4 ± 4.3 years. The histopathology results from the gonadal biopsy showed malignancy in 7 cases (58.3%). The most commonly diagnosed tumors were dysgerminoma and gonadoblastoma. Conclusion. Early diagnosis of Swyer syndrome is necessary in view of the risk of malignancy that can develop at a young age. In several cases, the diagnosis of the syndrome was made only after the malignant process development. The study showed the median time between diagnosis and gonadectomy was suboptimal. Therefore, women with amenorrhea and lack of secondary sexual characteristics require careful investigation.  

Male-to-Female Gender-Confirming Surgery

2018 ◽  
Author(s):  
Shane D Morrison ◽  
Stelios C Wilson ◽  
Marcelina G Perez ◽  
Thomas Satterwhite
Keyword(s):  
Female Gender ◽  
Standards Of Care ◽  
Surgical Approaches ◽  
Medical Professionals ◽  
Augmentation Mammoplasty ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Surgical Options ◽  
Male To Female ◽  
Current Standards

Advances in male-to-female gender-confirming surgery enable acquisition of female secondary sexual characteristics for gender dysphoric patients desiring surgical transition. It is imperative for medical professionals caring for transgender patients to be informed of the current standards of care and the available surgical options. This review discusses male-to-female chest and genital reconstructive surgical approaches. This review contains 27 figures, 5 tables and 52 references  Key words: augmentation mammoplasty, gender-confirming surgery, genital reconstruction, male to female, transgender, vaginoplasty 

Testosterone Therapy for Pubertal delay

1992 ◽  
Vol 13 (1) ◽  
pp. 5-39
Keyword(s):  
Anabolic Steroids ◽  
Pubic Hair ◽  
Height Velocity ◽  
Delayed Puberty ◽  
Secondary Sexual Characteristics ◽  
Self Image ◽  
Pubertal Delay ◽  
Constitutional Delay ◽  
Sexual Characteristics ◽  
Age Appropriate

Despite considerable variation in the age at which puberty normally begins, a male adolescent who has demonstrated neither testicular nor pubic hair growth by 14 years of age is considered to have delayed puberty. Although such delay may indicate hypopituitarism or isolated gonadotropin deficiency, most commonly it represents a normal variation, termed "constitutional delay in growth and maturation." Such patients eventually will enter puberty and achieve normal sexual maturation and adult height. However, during adolescence, such delays may be accompanied by impaired self-image and social isolation. Under these conditions, many pediatric endocrinologists advocate short-term use of anabolic steroids. Such therapy is aimed at accelerating height velocity during the ensuing year, accompanied by the development of age-appropriate secondary sexual characteristics.

Revision of the oribatid mite genus Austronothrus Hammer (Acari:Oribatida):sexual dimorphism and a re-evaluation of the phylogenetic relationships of the family Crotoniidae

2009 ◽  
Vol 23 (2) ◽  
pp. 87 ◽  
Author(s):  
Matthew J. Colloff ◽  
Stephen L. Cameron
Keyword(s):  
New Zealand ◽  
Cladistic Analysis ◽  
Oribatid Mite ◽  
Morphological Characters ◽  
Separate Species ◽  
Secondary Sexual Characteristics ◽  
Sister Clade ◽  
The Family ◽  
Sexual Characteristics ◽  
Males And Females

The Gondwanan relict oribatid mite family Crotoniidae contains the genera Austronothrus Hammer, 1966, Crotonia Thorell, 1876 and Holonothrus Wallwork, 1963. This family is of considerable interest biogeographically and also because the members of the family may have re-evolved sexuality from thelytokous parthenogenetic ancestors. Crotonia and Holonothrus are speciose and widely distributed whereas Austronothrus is obscure, hitherto monospecific and known only from New Zealand. We revise Austronothrus and compare it with its better-known congeners. Two new species of Austronothrus are described from New Zealand, namely A. clarki, sp. nov., and A. flagellatus, sp. nov. The only previously known species, Austronothrus curviseta Hammer, 1966, is redescribed and the genus is redefined. The presence of male specimens of all species confirmed Austronothrus as a sexual genus, like its congeners. Secondary sexual characteristics within Austronothrus and Crotonia include significant differences in body size and proportion, as well as the lengths and shapes of various setae, predominantly those of the notogastral region. Because these characters are frequently used by taxonomists to separate and define species within the Crotoniidae, it is important that the sex of adult specimens be determined to avoid describing conspecific males and females as separate species. A phylogenetic analysis based on morphological characters shows the crotoniid genera nested within the Camisiidae, with Camisia von Heyden, 1826 basal to the crotoniid clade of Austronothrus, Holonothrus and Crotonia, and with a clade of Platynothrus Berlese, 1913, Heminothrus Berlese, 1913 and Paracamisia Olszanowski & Norton, 2002 (Camisiidae) forming the sister clade of Camisia + Crotoniidae. Thus, Camisiidae is paraphyletic with respect to Crotoniidae. The family Crotoniidae is revised in light of the cladistic analysis, and relegated to subfamily rank. Three subfamilies are defined within the Camisiidae : Crotoniinae (containing Crotonia, Austronothrus and Holonothrus), Camisiinae (containing Camisia) and Heminothridae, subfam. nov. (containing Heminothrus, Platynothrus and Neonothrus Forsslund, 1955). Nothrus maximus Trägårdh, 1901 belongs to the genus Platynothrus and is recombined.

scholarly journals Diagnosis and management of of primary amenorrhea and female delayed puberty

2021 ◽  
Author(s):  
Satu Seppä ◽  
Tanja Kuiri-Hänninen ◽  
Elina Holopainen ◽  
Raimo Voutilainen
Keyword(s):  
Pubertal Development ◽  
Hypogonadotropic Hypogonadism ◽  
Reproductive Capacity ◽  
Breast Development ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Old Females ◽  
Secondary Sexual

Puberty is the period of transition from childhood to adulthood characterized by the attainment of adult height and body composition, accrual of bone strength and the acquisition of secondary sexual characteristics, psychosocial maturation and reproductive capacity. In girls, menarche is a late marker of puberty. Primary amenorrhea is defined as the absence of menarche in ≥15-year-old females with developed secondary sexual characteristics and normal growth or that in ≥13-year-old females without signs of pubertal development. Furthermore, evaluation for primary amenorrhea should be considered in the absence of menarche three years after thelarche (start of breast development) or five years after thelarce, if that occurred before the age of 10 years. A variety of disorders in the hypothalamus-pituitary-ovarian axis can lead to primary amenorrhea with delayed, arrested or normal pubertal development. Etiologies can be categorized as hypothalamic or pituitary disorders causing hypogonadotropic hypogonadism, gonadal disorders causing hypergonadotropic hypogonadism, disorders of other endocrine glands, and congenital utero-vaginal anomalies. This article gives a comprehensive review of the etiologies, diagnostics and management of primary amenorrhea from the perspective of pediatric endocrinologists and gynecologists. The goals of treatment vary depending on both the etiology and patient; with timely etiological diagnostics fertility may be attained even in those situations where no curable treatment exists.

Cyp11a2 is essential for oocyte development and spermatogonial stem cell differentiation in zebrafish

Endocrinology ◽  
2021 ◽  
Author(s):  
Yaqing Wang ◽  
Ding Ye ◽  
Fenghua Zhang ◽  
Ru Zhang ◽  
Junwen Zhu ◽  
...  
Keyword(s):  
Leydig Cells ◽  
Stem Cell Differentiation ◽  
High Abundance ◽  
Wild Type ◽  
Secondary Sexual Characteristics ◽  
Testicular Cells ◽  
Rate Limiting Step ◽  
Sexual Characteristics ◽  
Males And Females ◽  
Rate Limiting

Abstract Cytochrome P45011A1, encoded by Cyp11a1, converts cholesterol to pregnenolone (P5), the first and rate-limiting step in steroidogenesis. In zebrafish, cyp11a1 is maternally expressed and cyp11a2 is considered the ortholog of Cyp11a1 in mammals. A recent study has shown that depletion of cyp11a2 resulted in steroidogenic deficiencies and the mutants developed into males with feminized secondary sexual characteristics. Here, we independently generated cyp11a2 mutants in zebrafish and showed that the mutants can develop into males and females in the juvenile stage, but finally into infertile males with defective mating behavior in the adult stage. In the developing ovaries, the cyp11a2 mutation led to stage I oocyte apoptosis and final sex reversal, which could be partially rescued by treatment with P5 but not estradiol. In the developing testes, depletion of cyp11a2 resulted in dysfunction of Sertoli cells and lack of functional Leydig cells. Spermatogonial stem cells (SSCs) in the mutant testes underwent active self-renewal but no differentiation, resulting in a high abundance of SSCs in the testis, as revealed by immunofluorescence staining with Nanos2 antibody. The high abundance and differentiation competence of SSCs in the mutant testes were verified by a novel testicular cell transplantation (TCT) method developed in this study, by transplanting mutant testicular cells into germline-depleted wild-type (WT) fish. The transplanted mutant SSCs efficiently differentiated into functional spermatids in WT hosts. Overall, our study demonstrates the functional importance of cyp11a2 in early oogenesis and differentiation of SSCs.

scholarly journals Cardiovascular Risk Associated With Gender Affirming Hormone Therapy in Transgender Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Gloria Aranda ◽  
Irene Halperin ◽  
Esther Gomez-Gil ◽  
Felicia A. Hanzu ◽  
Núria Seguí ◽  
...  
Keyword(s):  
Hormone Therapy ◽  
Well Being ◽  
Current Data ◽  
Surrogate Markers ◽  
Men And Women ◽  
Secondary Sexual Characteristics ◽  
Full Development ◽  
Sexual Characteristics ◽  
The Impact

Transgender men and women represent about 0.6 -1.1%% of the general population. Gender affirming hormone therapy (GAHT) helps ameliorate gender dysphoria and promote well-being. However, these treatments’ cardiovascular (CV) effects are difficult to evaluate due to the limited number of extensive longitudinal studies focused on CV outcomes in this population. Furthermore, these studies are mainly observational and difficult to interpret due to a variety of hormone regimens and observation periods, together with possible bias by confounding factors (comorbidities, estrogen types, smoking, alcohol abuse, HIV infection). In addition, the introduction of GAHT at increasingly earlier ages, even before the full development of the secondary sexual characteristics, could lead to long-term changes in CV risk compared to current data.This review examines the impact of GAHT in the transgender population on CV outcomes and surrogate markers of CV health. Furthermore, we review available data on changes in DNA methylation or RNA transcription induced by GAHT that may translate into changes in metabolic parameters that could increase CV risk.

scholarly journals Uticaj porođajne mase i aktuelne težine deteta na nastanak prevremenog puberteta

Praxis medica ◽  
2020 ◽  
Vol 49 (1-2) ◽  
pp. 7-12
Author(s):  
Snežana Marković-Jovanović ◽  
Maja Ješić ◽  
Vlada Bojić ◽  
Aleksandar Jovanović ◽  
Zorica Živković ◽  
...  
Keyword(s):  
Body Weight ◽  
Birth Weight ◽  
Critical Mass ◽  
Nutrition Status ◽  
Delayed Puberty ◽  
Secondary Sexual Characteristics ◽  
Reproductive Ability ◽  
Sexual Characteristics ◽  
High Calorie ◽  
Secondary Sexual

Introduction: Puberty is a juvenile developmental period accompanied by intensive growth and acquisition of reproductive ability. The onset of puberty is influenced by many factors: genetics, neuropeptides and glycoproteins, gonadotropins, sex hormones and the child's nutrition status. Premature puberty is defined as the appearance of secondary sexual characteristics in girls before the age of 8, and in boys before the age of 9. The aim of this paper is to analyze the published results on the importance and influence of factors such as birth weight, current weight and BMI on the development of premature puberty. Results: Eating disorders caused by eating high-calorie foods lead a child to obesity, which is accompanied by premature puberty. On the other hand, conditions characterized by reduced nutrition may be accompanied by delayed puberty. According to the results of this study, children with more pronounced manifestations of precocious puberty had a significantly lower birth weight Discussion: Birth weight of less than 2500g, as well as newborns' SGA (small for gestational age), are directly related to earlier pubertal maturation. Five decades ago, Frich et al. found that reaching a body weight of 48 kg in girls is a "critical mass" for development of menarche. Conclusion: The occurrence of secondary sexual characteristics is more frequent in children with increased body weight and correlates inversely with the child's birthweight.

Sex determination and Y chromosome constitutive heterochromatin

2019 ◽  
Vol 1 (1) ◽  
pp. 1-5
Author(s):  
Abyt Ibraimov
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Constitutive Heterochromatin ◽  
Sex Differentiation ◽  
Secondary Sexual Characteristics ◽  
Biological Meaning ◽  
Heterochromatin Block ◽  
Sexual Characteristics ◽  
Open Question ◽  
Efficient Elimination

In many animals, including us, the genetic sex is determined at fertilization by sex chromosomes. Seemingly, the sex determination (SD) in human and animals is determined by the amount of constitutive heterochromatin on Y chromosome via cell thermoregulation. It is assumed the medulla and cortex tissue cells in the undifferentiated embryonic gonads (UEG) differ in vulnerability to the increase of the intracellular temperature. If the amount of the Y chromosome constitutive heterochromatin is enough for efficient elimination of heat difference between the nucleus and cytoplasm in rapidly growing UEG cells the medulla tissue survives. Otherwise it doomed to degeneration and a cortex tissue will remain in the UEG. Regardless of whether our assumption is true or not, it remains an open question why on Y chromosome there is a large constitutive heterochromatin block? What is its biological meaning? Does it relate to sex determination, sex differentiation and development of secondary sexual characteristics? If so, what is its mechanism: chemical or physical? There is no scientifically sound answer to these questions.

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