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Current Opinion in Endocrinology,... Feb 2022In this review, we have summarized the current data on the effect of sexual precocity and treatment with gonadotropin-releasing hormone analogues (GnRHa) on body... (Review)
Review
PURPOSE OF REVIEW
In this review, we have summarized the current data on the effect of sexual precocity and treatment with gonadotropin-releasing hormone analogues (GnRHa) on body composition.
RECENT FINDINGS
Higher body weight and weight gain in infancy and childhood may increase the risk of early puberty in girls. The relation between BMI and pubertal onset in boys is controversial. Current studies draw attention to the fact that a similar relationship may exist in boys too. Obesity prevalence is high among girls with central precocious puberty (CPP) and treatment with GnRHa has a different effect on BMI according to baseline body composition. Although BMI values of normal weight girls tend to increase under treatment, they return to normal following treatment. The few studies that have followed up body composition longitudinally in girls show a gradual increase in adiposity, decrease in muscle mass and bone mineral density during GnRHa treatment, whereas bone mass was preserved after treatment. Adequate data are not available in boys to determine the effect of GnRHa therapy on body composition.
SUMMARY
Body composition and fat distribution should be monitored longitudinally in patients with CPP treated with GnRHa to ascertain the long-term effects of therapy.
Topics: Body Composition; Body Height; Body Mass Index; Child; Female; Gonadotropin-Releasing Hormone; Humans; Male; Obesity; Puberty, Precocious
PubMed: 34839325
DOI: 10.1097/MED.0000000000000687 -
Best Practice & Research. Clinical... Jun 2019Precocious puberty is defined as the appearance of secondary sex characteristics before 8 years of age in girls and before 9 years of age in boys. Central precocious... (Review)
Review
Precocious puberty is defined as the appearance of secondary sex characteristics before 8 years of age in girls and before 9 years of age in boys. Central precocious puberty (CPP) is diagnosed when activation of the hypothalamic-pituitary axis is identified. It is a rare disease with a clear female predominance. A background of international adoption increases its risk, with other environmental factors such as endocrine disruptors also being associated with CPP. The causes of CPP are heterogeneous, with alterations of the CNS being of special interest. Physical injuries of the CNS are more frequent in boys, while idiopathic etiology is more prevalent among girls. However, in the last decade the number of idiopathic cases has diminished thanks to the discovery of mutations in different genes, including KISS1, KISS1R, MKRN3, and DLK1 that cause CPP. For the diagnosis of CPP, hormone studies are needed in addition to the clinical data regarding signs of pubertal onset. For this purpose, the GnRH test continues to be the gold standard. Imaging analyses, such as bone age and brain MRI, are also very useful. Furthermore, genetic testing must be incorporated in the diagnosis of CPP, especially in familial cases. Early puberty has been related to various consequences in the medium and long term such as behavioral problems, breast cancer, obesity, and metabolic comorbidities. However, there are few studies that have exclusively analyzed patients with CPP. GnRH analogs are the most frequent treatment election with the main objective being to improve adult height. Currently, there are new formulations that are being investigated.
Topics: Child; Female; Gonadotropin-Releasing Hormone; Humans; Male; Neoplasms; Puberty, Precocious
PubMed: 30733078
DOI: 10.1016/j.beem.2019.01.003 -
Pediatrics in Review Sep 2022
Topics: Humans; Puberty; Puberty, Precocious
PubMed: 36045159
DOI: 10.1542/pir.2021-005059 -
Endocrinology and Metabolism Clinics of... Jun 2024A thorough history and physical examination including Tanner staging and growth assessments can guide differential diagnosis and aid in the evaluation of precocious...
A thorough history and physical examination including Tanner staging and growth assessments can guide differential diagnosis and aid in the evaluation of precocious puberty. Basal luteinizing hormone levels measured using a highly sensitive assay can be helpful in diagnosing central precocious puberty (CPP). Brain MRI is indicated with males diagnosed with CPP and females under the age of 6 with CPP. As more information becomes available regarding the genetic etiologies of CPP, genetic testing may preclude the need for imaging studies and other hormonal testing, especially in familial cases.
Topics: Child; Child, Preschool; Female; Humans; Male; Luteinizing Hormone; Magnetic Resonance Imaging; Puberty, Precocious
PubMed: 38677865
DOI: 10.1016/j.ecl.2024.02.002 -
Primary Care Dec 2018Women's reproductive health maintenance begins in the early years of growth and development. Routine care is the basis for early detection of menstrual dysfunction and... (Review)
Review
Women's reproductive health maintenance begins in the early years of growth and development. Routine care is the basis for early detection of menstrual dysfunction and delays or acceleration of physical development. Patients and their families may not address menstruation concerns because of the sensitive nature of the topic, the patient's self-conscious attitudes, and the parent's apprehension. Providers should be able to provide early detection of menstrual abnormalities, which may uncover underlying health concerns and structural abnormalities. Early intervention and treatment may accelerate or decelerate physical growth, preserve fertility, and promote healthy behaviors with decreased psychological stress for patients and families.
Topics: Female; Humans; Polycystic Ovary Syndrome; Primary Health Care; Puberty; Puberty, Delayed; Puberty, Precocious; Uterine Hemorrhage; Women's Health
PubMed: 30401343
DOI: 10.1016/j.pop.2018.07.003 -
Endocrinology and Metabolism Clinics of... Dec 2020Delayed puberty may signify a common variation of normal development, or indicate the presence of a pathologic process. Constitutional delay of growth and puberty is a... (Review)
Review
Delayed puberty may signify a common variation of normal development, or indicate the presence of a pathologic process. Constitutional delay of growth and puberty is a strongly familial type of developmental pattern and accounts for the vast majority of children who are "late bloomers." Individuals with sex chromosomal abnormalities frequently have hypergonadotropic hypogonadism. There are currently 4 known monogenic causes of central precocious puberty. The primary treatment goal in children with hypogonadism is to mimic normal pubertal progression, while the primary aims for the management of precocious puberty are preservation of height potential and prevention of further pubertal development.
Topics: Adolescent; Child; Humans; Hypogonadism; Puberty, Delayed; Puberty, Precocious
PubMed: 33153677
DOI: 10.1016/j.ecl.2020.08.002 -
Archivos Argentinos de Pediatria Jun 2023
Topics: Humans; Puberty, Precocious; COVID-19; Argentina
PubMed: 36893338
DOI: 10.5546/aap.2023-03028.eng -
The Journal of Clinical Endocrinology... Jun 2023Central precocious puberty (CPP) can have a familial form in approximately one-quarter of the children. The recognition of this inherited condition increased after the...
CONTEXT
Central precocious puberty (CPP) can have a familial form in approximately one-quarter of the children. The recognition of this inherited condition increased after the identification of autosomal dominant CPP with paternal transmission caused by mutations in the MKRN3 and DLK1 genes.
OBJECTIVE
We aimed to characterize the inheritance and estimate the prevalence of familial CPP in a large multiethnic cohort; to compare clinical and hormonal features, as well as treatment response to GnRH analogs (GnRHa), in children with distinct modes of transmission; and to investigate the genetic basis of familial CPP.
METHODS
We retrospectively studied 586 children with a diagnosis of CPP. Patients with familial CPP (n = 276) were selected for clinical and genetic analysis. Data from previous studies were grouped, encompassing sequencing of MKRN3 and DLK1 genes in 204 patients. Large-scale parallel sequencing was performed in 48 individuals from 34 families.
RESULTS
The prevalence of familial CPP was estimated at 22%, with a similar frequency of maternal and paternal transmission. Pedigree analyses of families with maternal transmission suggested an autosomal dominant inheritance. Clinical and hormonal features, as well as treatment response to GnRHa, were similar among patients with different forms of transmission of familial CPP. MKRN3 loss-of-function mutations were the most prevalent cause of familial CPP, followed by DLK1 loss-of-function mutations, affecting, respectively, 22% and 4% of the studied families; both affected exclusively families with paternal transmission. Rare variants of uncertain significance were identified in CPP families with maternal transmission.
CONCLUSION
We demonstrated a similar prevalence of familial CPP with maternal and paternal transmission. MKRN3 and DLK1 loss-of-function mutations were the major causes of familial CPP with paternal transmission.
Topics: Male; Child; Humans; Puberty, Precocious; Retrospective Studies; Mutation; Fathers; Inheritance Patterns; Ubiquitin-Protein Ligases; Puberty
PubMed: 36611250
DOI: 10.1210/clinem/dgac763 -
Endocrine Development 2016There are many etiologies of peripheral precocious puberty (PPP) with diverse manifestations resulting from exposure to androgens, estrogens, or both. The clinical... (Review)
Review
There are many etiologies of peripheral precocious puberty (PPP) with diverse manifestations resulting from exposure to androgens, estrogens, or both. The clinical presentation depends on the underlying process and may be acute or gradual. The primary goals of therapy are to halt pubertal development and restore sex steroids to prepubertal values. Attenuation of linear growth velocity and rate of skeletal maturation in order to maximize height potential are additional considerations for many patients. McCune-Albright syndrome (MAS) and familial male-limited precocious puberty (FMPP) represent rare causes of PPP that arise from activating mutations in GNAS1 and the LH receptor gene, respectively. Several different therapeutic approaches have been investigated for both conditions with variable success. Experience to date suggests that the ideal therapy for precocious puberty secondary to MAS in girls remains elusive. In contrast, while the number of treated patients remains small, several successful therapeutic options for FMPP are available.
Topics: Adolescent; Female; Fibrous Dysplasia, Polyostotic; Humans; Male; Puberty, Precocious
PubMed: 26680582
DOI: 10.1159/000438895 -
Journal of Pediatric and Adolescent... Oct 2019Precocious puberty (PP) in girls refers to secondary sexual development occurring earlier than the lower end of normal for the onset of puberty. It might be the... (Review)
Review
Precocious puberty (PP) in girls refers to secondary sexual development occurring earlier than the lower end of normal for the onset of puberty. It might be the presenting feature of a serious underlying condition or signify a common variation of normal for which no treatment is necessary. Depending on the source and type of sex steroids involved, clinical findings may indicate exposure to estrogens, androgens, or both. Likewise, the onset of the PP might be gradual or abrupt and the rate of progression is variable. Recent years have witnessed exciting advancements in the understanding of the molecular genetic basis for some forms of PP in girls as well as in the development of additional treatment options. In this review an update on the most commonly encountered causes of PP in girls including their clinical presentation, pathophysiology, diagnosis, and management are provided. Recommendations regarding when to refer, and areas in particular need of additional research are also delineated.
Topics: Androgens; Child; Estrogens; Female; Humans; Puberty, Precocious; Risk Factors; Sexual Maturation
PubMed: 31158483
DOI: 10.1016/j.jpag.2019.05.011