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Clinical Endocrinology Feb 2017
Society for Endocrinology UK guidance on the evaluation of suspected disorders of sexual development: emphasizing the opportunity to predict adolescent pubertal failure through a neonatal diagnosis of absent minipuberty.
Topics: Diagnostic Techniques and Procedures; Disorders of Sex Development; Endocrinology; Humans; Infant, Newborn; Predictive Value of Tests; Puberty; Sexual Maturation; Societies, Medical; United Kingdom
PubMed: 27749014
DOI: 10.1111/cen.13257 -
European Journal of Pediatrics May 1993A group of 17 endocrinologically normal short stature adolescent (9 females aged 11.8 +/- 1.5 years and 8 males aged 13.2 +/- 1.1 years) referred at a pubertal stage... (Clinical Trial)
Clinical Trial
A group of 17 endocrinologically normal short stature adolescent (9 females aged 11.8 +/- 1.5 years and 8 males aged 13.2 +/- 1.1 years) referred at a pubertal stage II-III according to Tanner with a height prediction below -2.5 SD according to Bayley and Pinneau, were treated with long-acting D-Trp6-luteinizing hormone-releasing hormone (3.75 mg i.m. monthly for 24 months) and observed for a period of 13.4 +/- 5.8 months. Pubertal progression was suppressed during the 2 years of analogue therapy, then resumed shortly after the end of treatment. Annual growth rate remained in the prepubertal range during the treatment period and did not increase with the resumption of sexual development. A reduced rate of bone maturation was observed during the 2 years of analogue treatment without clear-cut improvement of the height to bone age relationship at the end of the treatment nor after the post-treatment observation period. Thus, after approximately 3 years of study, no significant improvement of predicted adult stature was obtained. There were no side-effects, but psychological problems mainly related to the failure to increase height. Though methods for predicting adult height are not accurate, these data suggest that use of luteinizing hormone-releasing hormone analogue in endocrinologically normal short subjects entering puberty at normal age with a poor height prognosis does not offer enough possible advantages on growth to offset the possible psychological drawbacks, and cannot be considered as routine treatment in this situation.
Topics: Adolescent; Age Determination by Skeleton; Body Height; Child; Delayed-Action Preparations; Female; Follow-Up Studies; Gonadotropin-Releasing Hormone; Growth Disorders; Humans; Male; Prognosis; Puberty; Treatment Failure; Triptorelin Pamoate
PubMed: 8319702
DOI: 10.1007/BF01955894 -
Journal of Reproduction and Fertility.... 1989Premature gonadal failure has been detected in phenotypically female dogs and cats with defective prenatal germ cell migration (ovarian aplasia), defective prenatal... (Review)
Review
Premature gonadal failure has been detected in phenotypically female dogs and cats with defective prenatal germ cell migration (ovarian aplasia), defective prenatal differentiation of the gonadal ridge into ovarian tissue (true hermaphroditism, male pseudohermaphroditism, ovarian dysgenesis in the presence of XO or XXX sex chromosome complements) or defective gamete maturation in the presence of primordial ovarian follicles (lymphocytic oophoritis, thyroid insufficiency). The most common of these is defective gonadal differentiation in animals with true hermaphroditism and failure of gamete maturation in thyroid insufficiency. A common clinical sign of premature gonadal failure in companion animals is failure to show a pubertal oestrus by 2 years of age. Diagnostic evaluation of such animals should include determination of the karyotype, plasma concentrations of LH and FSH and of thyroid hormones, gonadal histology, and gross evaluation of the Müllerian duct system at laparotomy.
Topics: Animals; Cat Diseases; Cats; Disorders of Sex Development; Dog Diseases; Dogs; Female; Gonadal Dysgenesis; Sex Chromosome Aberrations
PubMed: 2695643
DOI: No ID Found -
Pediatric Rheumatology Online Journal Mar 2021Juvenile Idiopathic Arthritis is one of the most prevalent chronic diseases in children, with an annual incidence of 2-20 cases per 100,000 and a prevalence of 16-150... (Review)
Review
Juvenile Idiopathic Arthritis is one of the most prevalent chronic diseases in children, with an annual incidence of 2-20 cases per 100,000 and a prevalence of 16-150 per 100,000. It is associated with several complications that can cause short-term or long-term disability and reduce the quality of life. Among these, growth and pubertal disorders play an important role. Chronic inflammatory conditions are often associated with growth failure ranging from slight decrease in height velocity to severe forms of short stature. The prevalence of short stature in JIA varies from 10.4% in children with polyarticular disease to 41% of patients with the systemic form, while oligoarthritis is mostly associated with localized excessive bone growth of the affected limb, leading to limb dissymmetry. The pathogenesis of growth disorders is multifactorial and includes the role of chronic inflammation, long-term use of corticosteroids, undernutrition, altered body composition, delay of pubertal onset or slow pubertal progression. These factors can exert a systemic effect on the GH/IGF-1 axis and on the GnRH-gonadotropin-gonadic axis, or a local influence on the growth plate homeostasis and function. Although new therapeutic options are available to control inflammation, there are still 10-20% of patients with severe forms of the disease who show continuous growth impairment, ending in a short final stature. Moreover, delayed puberty is associated with a reduction in the peak bone mass with the possibility of concomitant or future bone fragility. Monitoring of puberty and bone health is essential for a complete health assessment of adolescents with JIA. In these patients, an assessment of the pubertal stage every 6 months from the age of 9 years is recommended. Also, linear growth should be always evaluated considering the patient's bone age. The impact of rhGH therapy in children with JIA is still unclear, but it has been shown that if rhGH is added at high dose in a low-inflammatory condition, post steroids and on biologic therapy, it is able to favor a prepubertal growth acceleration, comparable with the catch-up growth response in GH-deficient patients. Here we provide a comprehensive review of the pathogenesis of puberty and growth disorders in children with JIA, which can help the pediatrician to properly and timely assess the presence of growth and pubertal disorders in JIA patients.
Topics: Adolescent; Arthritis, Juvenile; Child; Growth Disorders; Humans; Puberty
PubMed: 33712046
DOI: 10.1186/s12969-021-00521-5 -
Gynecological Endocrinology : the... Jan 2011With increasing success in treatment of childhood cancer there is a growing population of women with premature ovarian failure (POF) seeking fertility treatment. Various... (Review)
Review
With increasing success in treatment of childhood cancer there is a growing population of women with premature ovarian failure (POF) seeking fertility treatment. Various preparations of estrogen and progestogen are prescribed for young women with POF. While the dose and duration of hormone therapy (HT) is usually adjusted according to the patient's height and the Tanner's stage of development for young pre-pubertal women, the optimal effective HT regimen to maximise the reproductive potential for young as well as for the older age group remains unclear. Furthermore, there is a paucity of evidence to support the preferential effectiveness of the different regimens used. Assisted reproduction using donated gametes or embryos remains the only realistic option to enable women with POF to conceive. Successful outcomes are primarily dependant on successful implantation and placentation. Consequently, the success of assisted reproduction is determined by uterine and endometrial development, which is largely influenced by the modality of HT as well as the age at which it is commenced. In this review, we critically appraise the current practices and published data for management of women with POF. We aim to focus on the effect of HT on uterine development in women with primary and irreversible POF.
Topics: Adolescent; Amenorrhea; Body Height; Estradiol; Estrogen Replacement Therapy; Female; Humans; Oocyte Donation; Pregnancy; Primary Ovarian Insufficiency; Progesterone; Puberty; Reproduction; Reproductive Techniques, Assisted; Treatment Outcome
PubMed: 20608810
DOI: 10.3109/09513590.2010.501875 -
Seminars in Reproductive Medicine Nov 2003The ability to diagnose and manage disorders that cause delayed puberty requires a thorough understanding of the physical and hormonal events of puberty. Wide variation... (Review)
Review
The ability to diagnose and manage disorders that cause delayed puberty requires a thorough understanding of the physical and hormonal events of puberty. Wide variation exists within normal pubertal maturation, but most adolescent girls in the United States have begun to mature by the age of 13. Delayed puberty, a rare condition in girls, occurs in only approximately 2.5% of the population. Constitutional delay, genetic defects, or hypothalamic-pituitary disorders are common causes. Amenorrhea, often found as a symptom of delayed puberty, may be due to congenital genital tract anomalies, ovarian failure, or chronic anovulation with estrogen presence or with estrogen absence.
Topics: Adolescent; Amenorrhea; Female; Genitalia, Female; Gonadotropins; Humans; Hypogonadism; Kallmann Syndrome; Klinefelter Syndrome; Male; Mutation; Puberty, Delayed; Receptors, FSH; Receptors, LH; Turner Syndrome
PubMed: 14724768
DOI: 10.1055/s-2004-815591 -
Indian Pediatrics Feb 2015Small for gestational age infants have multifold increased risk of growth failure and adulthood disorders. Those who experience rapid catch up growth are at risk of... (Review)
Review
CONTEXT
Small for gestational age infants have multifold increased risk of growth failure and adulthood disorders. Those who experience rapid catch up growth are at risk of developing metabolic syndrome, whereas those without catch up may end up with short stature. These children are also prone to an altered pubertal development.
NEED AND PURPOSE
Scarcity of literature, lack of published guidelines on the follow-up and management plan of children born with small for gestational age.
EVIDENCE ACQUISITION
Literature search in PubMed was conducted with regard to epidemiology, growth and puberty, comorbidities, its pathogenesis and management in small for gestational age, with particular relevance for developing countries. An algorithm for follow-up of these children is outlined, based on available empiric data.
CONCLUSIONS
Being born small for gestational age predisposes to many metabolic and pubertal disorders. Special emphasis is needed for early detection and management through early surveillance in growth clinics, and regular follow-up to prevent associated comorbidities.
Topics: Adolescent; Body Height; Child, Preschool; Fetal Growth Retardation; Humans; India; Infant; Infant, Newborn; Infant, Small for Gestational Age; Puberty
PubMed: 25691182
DOI: 10.1007/s13312-015-0588-z -
Annales D'endocrinologie May 2010Congenital hypogonadotropic hypogonadisms (CHH) are a well-known cause of pubertal development failure in women. In a majority of patients, the clinical spectrum results... (Review)
Review
Congenital hypogonadotropic hypogonadisms (CHH) are a well-known cause of pubertal development failure in women. In a majority of patients, the clinical spectrum results from an insufficient and concomitant secretion of both pituitary gonadotropins LH and FSH that impedes a normal endocrine and exocrine cyclical ovary functioning after the age of pubertal activation of gonadotropic axis. In exceptional but interesting cases, they can result from an elective deficit of one of the gonadotropins follicle-stimulating hormone (FSH) or luteinizing hormone (LH) by genetic anomaly of their specific ss sub-unit. CHH prevalence, estimated from teaching hospital series, is considered to be two to five fold less important in women compared to men bearing the disease. This frequency is probably under-estimated in reason of under-diagnosis of forms with partial pubertal development. Isolated or apparently isolated forms (i.e., Kallmann syndrome with anosmia or hyposmia not spontaneously expressed by the patients) of these diseases are most of the time discovered during adolescence or in adulthood in reason of lacking, incomplete or even apparently complete pubertal development, but with almost constant primary amenorrhea. In a minority of cases and mainly in familial forms, genetic autosomal causes have been found. These cases are related to mutations of genes impinging the functioning of the pituitary-hypothalamic pathways involved in the normal secretion of LH and FSH (mutations of GnRHR, GnRH1, KISS1R/GPR54, TAC3, TACR3), which are always associated to isolated non syndromic CHH without anosmia. Some cases of mutations of FGFR1, and more rarely of its ligand FGF8, or of PROKR2 or its ligand PROK2 have been shown in women suffering from Kallmann syndrome or its hyposmic or normosmic variant. In complex syndromic causes (mutations of CHD7, leptin and leptin receptor anomalies, Prader-Willi syndrome, etc.), diagnosis of the CHH cause is most often suspected or set down before the age of puberty in reason of the associated clinical signs, but some rare cases of paucisymptomatic syndromic causes can initially be revealed during adolescence, like isolated non syndromic CHH or Kallmann syndrome.
Topics: Female; Fibroblast Growth Factor 8; Follicle Stimulating Hormone; Gastrointestinal Hormones; Humans; Hypogonadism; Kallmann Syndrome; Leptin; Luteinizing Hormone; Mutation; Neuropeptides; Ovarian Follicle; Ovulation; Prader-Willi Syndrome; Pregnancy; Pregnancy Complications; Puberty; Receptor, Fibroblast Growth Factor, Type 1; Receptors, G-Protein-Coupled; Receptors, Leptin; Receptors, Peptide; Theca Cells
PubMed: 20363464
DOI: 10.1016/j.ando.2010.02.024 -
Acta Paediatrica (Oslo, Norway : 1992).... Dec 1999Experimental animal studies demonstrate the effects of leptin on appetite, weight gain and metabolism. The biological effects of leptin in human adults are still to be... (Review)
Review
Experimental animal studies demonstrate the effects of leptin on appetite, weight gain and metabolism. The biological effects of leptin in human adults are still to be determined, but recent reports show that congenital leptin deficiency leads to hyperphagia and excessive weight gain from early infancy as well as failure of pubertal onset in adolescence. Our recently reported data from two longitudinal cohorts suggest a role for leptin in the normal regulation of childhood weight gain, maturation and the development of secondary sexual features and body composition. Low leptin levels in cord blood closely reflected decreased adiposity at birth and strongly predicted high rates of weight gain in infancy and catch-up growth. In adolescents, leptin levels rose gradually with age prior to puberty, suggesting that a threshold effect may trigger puberty. In girls, low leptin levels at the start of puberty predicted large gains in the percentage of fat mass, perhaps suggesting a role in the preparation for childbearing.
Topics: Adipose Tissue; Adolescent; Animals; Body Composition; Child; Child Development; Humans; Infant; Leptin; Puberty; Weight Gain
PubMed: 10626555
DOI: 10.1111/j.1651-2227.1999.tb14413.x -
Frontiers in Endocrinology 2014The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons... (Review)
Review
The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the reproductive axis across life. Congenital hypogonadotropic hypogonadism (HH) is a clinical syndrome that is characterized by partial or complete pubertal failure. HH may result from inadequate hypothalamic GnRH axis activation, or a failure of pituitary gonadotropin secretion/effects. In man, several genes that participate in olfactory and GnRH neuronal migration are thought to interact during the embryonic life. A growing number of mutations in different genes are responsible for congenital HH. Based on the presence or absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations [Kallmann syndrome (KS)] and idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH). KS is a heterogeneous disorder affecting 1 in 5000 males, with a three to fivefold of males over females. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF, and WDR11 genes that are related to defects in neuronal migration. These reproductive and olfactory deficits include a variable non-reproductive phenotype, including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities, and/or renal agenesis. Interestingly, defects in PROKR2, FGFR1, FGF8, CHD7, DUSP6, and WDR11 genes are also associated with normosmic IHH, whereas mutations in KISS1/KISSR, TAC3/TACR3, GNRH1/GNRHR, LEP/LEPR, HESX1, FSHB, and LHB are only present in patients with normosmic IHH. In this paper, we summarize the reproductive, neurodevelopmental, and genetic aspects of HH in human pathology.
PubMed: 25071724
DOI: 10.3389/fendo.2014.00109