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Frontiers in Endocrinology 2019Congenital hypogonadotrophic hypogonadism (CHH) is a rare but important etiology of pubertal failure and infertility, resulting from impaired gonadotrophin-releasing... (Review)
Review
Congenital hypogonadotrophic hypogonadism (CHH) is a rare but important etiology of pubertal failure and infertility, resulting from impaired gonadotrophin-releasing hormone secretion or action. Despite the availability of effective hormonal therapies, the majority of men with CHH experience unsatisfactory outcomes, including chronic psychosocial and reproductive sequelae. Early detection and timely interventions are crucial to address the gaps in medical care and improve the outlook for these patients. In this paper, we review the clinical implications of missing minipuberty in CHH and therapeutic strategies that can modify the course of disease, as well as explore a targeted approach to identifying affected male infants by integrating clinical and biochemical data in the early postnatal months.
PubMed: 30846970
DOI: 10.3389/fendo.2019.00097 -
Acta Bio-medica : Atenei Parmensis Feb 2018Failure of pubertal growth, delay or absence of sexual development, infertility and sexual dysfunction due to hypogonadism and defective spermatogenesis are frequent and... (Review)
Review
Failure of pubertal growth, delay or absence of sexual development, infertility and sexual dysfunction due to hypogonadism and defective spermatogenesis are frequent and well recognized disturbances among male patients with transfusion dependent (TD) thalassaemia major (β-thal). These problems are attributed mainly to the damage caused by chronic anaemia and the deposition of excess iron in the pituitary gland and testicles. This is a short review of male pubertal disorders in patients with β-thal written by pediatric endocrinologists and haematologists with an interest and active involvement, in the diagnosis and management of these complications in this group of patients. A vigilant clinical evaluation of growth and puberty, as well as an appropriate hormonal evaluation in poly-transfused (TD β-thal) patients is strongly recommended for early detection and treatment of endocrine dysfunction. Of crucial importance also, is the implementation of an efficient chelation regime from early life, to prevent severe iron load and permanent damage to the endocrine glands, particularly those responsible for gonadal function.
Topics: Fertility; Humans; Hypogonadism; Iron Overload; Male; Puberty; Testis; beta-Thalassemia
PubMed: 29451224
DOI: 10.23750/abm.v89i2-S.7082 -
Endocrine Development 2010The initiation of mammalian puberty requires an increased pulsatile release of gonadotropin-releasing hormone (GnRH) from the hypothalamus. This increase is brought... (Review)
Review
The initiation of mammalian puberty requires an increased pulsatile release of gonadotropin-releasing hormone (GnRH) from the hypothalamus. This increase is brought about by changes in transsynaptic and glial-neuronal communication. Coordination of these cellular interactions likely requires the participation of sets of genes hierarchically arranged within functionally connected networks. Using high throughput, genetic, molecular and bioinformatics strategies, in combination with a systems biology approach, three transcriptional regulators of the pubertal process have been identified, and the structure of at least one hypothalamic gene network has been proposed. A genomewide analysis of hypothalamic DNA methylation revealed profound changes in methylation patterns associated with the onset of female puberty. Pharmacological disruption of two epigenetic marks associated with gene silencing (DNA methylation and histone deacetylation) resulted in pubertal failure, instead of advancing the onset of puberty, suggesting that disruption of these two silencing mechanisms leads to activation of repressor genes whose expression would normally decrease at puberty. These observations suggest that the genetic underpinnings of puberty are polygenic rather than specified by a single gene, and that epigenetic mechanisms may provide coordination and transcriptional plasticity to this genetic network.
Topics: Epigenomics; Female; Gene Expression Regulation; Gonadotropin-Releasing Hormone; Humans; Hypothalamus; Male; Puberty
PubMed: 19955755
DOI: 10.1159/000262527 -
Kidney International May 1994Disturbed pulsatile LH secretion has been suggested to play a role in the etiology of delayed puberty and disturbed reproductive function in chronic renal failure (CRF),...
Immunoreactive and bioactive luteinizing hormone in pubertal patients with chronic renal failure. Cooperative Study Group on Pubertal Development in Chronic Renal Failure.
Disturbed pulsatile LH secretion has been suggested to play a role in the etiology of delayed puberty and disturbed reproductive function in chronic renal failure (CRF), but interpretation of gonadotropin secretion from plasma concentration measurements is confounded by alterations in hormone metabolic clearance. To simultaneously investigate LH secretion and clearance in children, we performed multiple-parameter deconvolution analysis of 11-hour over-night serum LH concentration-time series of bioactive (bio-LH) and immunoreactive (i-LH) hormone in 36 pubertal patients (18 boys) with various degrees of CRF and 10 healthy controls matched for sex and pubertal stage. Twelve patients received conservative treatment for advanced but compensated CRF, 12 were treated by dialysis, and 12 were studied after successful renal transplantation. We observed that: (1) the mean (+/- SE) plasma half-lives of bio-LH and i-LH were increased in the dialysis group (155 +/- 47 and 201 +/- 31 min) and in the patients on conservative treatment (148 +/- 45 and 135 +/- 70 min) compared to controls (59 +/- 28 and 63 +/- 21 min; all P < 0.05). The plasma half-life of bio-LH in patients on conservative treatment or after renal transplantation was inversely correlated with glomerular filtration rate (GFR) (r = -0.70; P < 0.0001). (2) Pulsatile bio-LH production rate was independently affected by pubertal stage (P = 0.018) and treatment status (P = 0.017), increasing across pubertal stages and being significantly lower in dialysis patients (20 +/- 4 IU/liter * 11 hr) and patients on conservative treatment (28 +/- 9) than in controls (43 +/- 9; all P < 0.05). In patients on conservative treatment or after transplantation, a significant positive correlation between pulsatile bio-LH production rate was observed (r = 0.53; P < 0.008). Pulsatile i-LH secretion rate was significantly reduced only in dialysis patients (15 +/- 34 vs. 46 +/- 18; P < 0.05). (3) The reduction of pulsatile i-LH and/or bio-LH production rates was attributable to a halving of the LH mass secreted per burst in patients on conservative (bio-LH: 4.9 +/- 1.9 IU/liter) and dialysis treatment (bio-LH: 3.2 +/- 0.7, i-LH: 2.4 +/- 0.6 IU/liter) versus controls (bio-LH: 6.9 +/- 1.3, i-LH: 5.4 +/- 2.1 IU/liter), whereas the LH pulse frequency was not different between controls and treatment groups.(ABSTRACT TRUNCATED AT 400 WORDS)
Topics: Adolescent; Female; Humans; Hypothalamo-Hypophyseal System; Kidney Failure, Chronic; Kidney Function Tests; Kidney Transplantation; Luteinizing Hormone; Male; Puberty; Renal Dialysis
PubMed: 8072260
DOI: 10.1038/ki.1994.191 -
Hormone Research 1993Various chronic diseases and malnutrition cause growth failure in childhood and adolescence; following recovery, catch-up growth may occur. The extent to which growth... (Review)
Review
Various chronic diseases and malnutrition cause growth failure in childhood and adolescence; following recovery, catch-up growth may occur. The extent to which growth failure can be compensated for depends on the timing, severity and duration of the growth failure, as well as on the aetiology and pathogenesis of the disease restricting growth and development. There are three types of catch-up growth. In type 1, when growth restriction ceases, growth occurs to such an extent that the height deficit is rapidly eliminated. Once the original growth curve is attained, growth proceeds normally. In type 2, when growth restriction ceases, there is a delay in growth and somatic development. However, growth continues for longer than usual, compensating for the growth arrest. Type 3 is a mixture of types 1 and 2, and all three types may be complete or incomplete. Two factors make it difficult to record catch-up growth during adolescence: the large variability in timing, expression and duration of pubertal growth and somatic development, and the relationship between the measurement error and the increase in growth observed within a defined time period. To avoid data collection and analysis problems, prospective and long-term study design should be considered. Ideally, data collection should be started in the prepubertal period and continue until final adult height is reached. High technical standards and well-trained personnel should be used. A variety of parameters should be assessed to obtain different dimensions of the growth process and pubertal development.(ABSTRACT TRUNCATED AT 250 WORDS)
Topics: Adolescent; Body Height; Child; Female; Growth; Growth Disorders; Humans; Male
PubMed: 8262491
DOI: 10.1159/000182783 -
Journal of Pediatric and Adolescent... Apr 2009Primary amenorrhea can be a sign of either delayed puberty or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
BACKGROUND
Primary amenorrhea can be a sign of either delayed puberty or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
CASE
A virgin 27-year-old woman with pubertal failure, primary amenorrhea, and uterine hypotrophy due to hypogonadotropic hypogonadism sought treatment at our institution. She was diagnosed as having MRKH syndrome 10 years ago at another institution after pelvic ultrasonography revealed no uterus or ovaries. Unfortunately, no further investigations had been made or treatments implemented during the ensuing decade.
SUMMARY AND CONCLUSION
In female patients in whom the uterus cannot be visualized with ultrasonography, magnetic resonance imaging and/or laparoscopy should be considered to ensure that the diagnosis is correct. Besides further imaging, hormonal assessment and breast development should always be initially considered for the diagnosis of delayed puberty and MRKH syndrome.
Topics: Adult; Amenorrhea; Atrophy; Female; Humans; Hypogonadism; Puberty; Uterus
PubMed: 19345907
DOI: 10.1016/j.jpag.2008.01.071 -
Current Opinion in Pediatrics Feb 2016Crouch gait is defined as excessive ankle dorsiflexion, knee and hip flexion during the stance phase. This gait disorder is common among patients with cerebral palsy.... (Review)
Review
PURPOSE OF REVIEW
Crouch gait is defined as excessive ankle dorsiflexion, knee and hip flexion during the stance phase. This gait disorder is common among patients with cerebral palsy. The present article brings an up-to-date literature review on the pathoanatomy, natural history, and treatment of this frequent gait abnormality.
RECENT FINDINGS
Hamstrings are often not shortened in patients with crouch. Patella alta must be addressed if surgery is performed. Surgical correction of joint contractures and lever arm dysfunction can be effectively achieved through a single-event multilevel surgery.
SUMMARY
Crouch gait is a common gait deviation, often seen among ambulatory diplegic and quadriplegic patients, once they reach the pubertal spurt, when weak muscles can no longer support a toe walking pattern because of rapidly increased weight. This form of gait is highly ineffective and might compromise walking ability over time. The anterior knee is overloaded; pain, extensor mechanism failure, and arthritis might develop. Its progressive nature often requires surgical intervention. The cause of crouch gait is multifactorial, and surgery should be tailored to meet the individual's specific anatomic and physiologic abnormalities.
Topics: Cerebral Palsy; Child; Disease Progression; Gait; Gait Disorders, Neurologic; Humans
PubMed: 26709688
DOI: 10.1097/MOP.0000000000000316 -
Trends in Endocrinology and Metabolism:... Dec 2019The classical definition of hypogonadism, used in adult medicine, as gonadal failure resulting in deficient steroid and gamete production, and its classification into... (Review)
Review
The classical definition of hypogonadism, used in adult medicine, as gonadal failure resulting in deficient steroid and gamete production, and its classification into hypergonadotropic and hypogonadotropic refer to primary gonadal and hypothalamic-pituitary disorders respectively and may lead to under- or misdiagnosis in pediatrics. Indeed, in children with primary gonadal failure, gonadotropin levels may be within the reference range for age. Conversely, since gonadotropins and steroids are normally low during childhood, it may prove impossible to show the existence of a hypogonadotropic state before pubertal age. Anti-Müllerian hormone (AMH) and inhibin B arise as more adequate biomarkers to assess gonadal function and increase the possibility of making an earlier diagnosis of hypogonadism in children, which may positively impact on timely management.
Topics: Androgens; Anti-Mullerian Hormone; Female; Genitalia; Gonadotropins; Humans; Hypogonadism; Male; Pediatrics; Pregnancy; Primary Ovarian Insufficiency; Testosterone
PubMed: 31471249
DOI: 10.1016/j.tem.2019.08.002 -
Nature Reviews. Endocrinology Oct 2011Congenital hypogonadotropic hypogonadism (CHH) causes pubertal failure and infertility in both women and men due to partial or total secretory failure of the two... (Review)
Review
Congenital hypogonadotropic hypogonadism (CHH) causes pubertal failure and infertility in both women and men due to partial or total secretory failure of the two pituitary gonadotropins lutropin (LH) and follitropin (FSH) during periods of physiological activation of the gonadotropic axis. Men and women with CHH frequently seek treatment for infertility after hypogonadism therapy. Some etiologies, such as autosomal dominant or X-linked Kallmann syndrome, raise the question of hereditary transmission, leading to increasing demands for genetic counseling and monitoring of medically assisted pregnancies. Diagnosis and treatment of newborn boys is, therefore, becoming an increasingly important issue. In male individuals with complete forms of CHH, the antenatal and neonatal gonadotropin deficit leads to formation of a micropenis and cryptorchidism, which could undermine future sexual and reproductive functions. Standard treatments, usually started after the age of puberty, often only partially correct the genital abnormalities and spermatogenesis. The aim of this Review is to examine the possible additional benefits of neonatal gonadotropin therapy in male patients with CHH. Encouraging results of neonatal therapy, together with a few reports of prepubertal treatment, support the use of this novel therapeutic strategy aimed at improving sexual and reproductive functions in adulthood.
Topics: Age Factors; Animals; Gonadotropin-Releasing Hormone; Gonadotropins, Pituitary; Humans; Hypogonadism; Infant, Newborn; Male; Puberty; Testosterone
PubMed: 22009162
DOI: 10.1038/nrendo.2011.164 -
Annals of Gastroenterology 2012Extraintestinal manifestations from nearly every organ system are common in inflammatory bowel disease (IBD). This review article describes the epidemiology,... (Review)
Review
Extraintestinal manifestations from nearly every organ system are common in inflammatory bowel disease (IBD). This review article describes the epidemiology, pathogenesis, diagnosis and management of the main endocrine and metabolic manifestations in IBD, including metabolic bone disease, growth retardation, hypogonadism, pubertal delay, lipid abnormalities and insulin resistance. These clinical problems are commonly interrelated and they share a common basis, influenced by disease-related inflammation and nutritional status. In addition to nutritional support, every effort should be made to achieve and maintain disease remission, thus correcting the underlying chronic inflammation. The criteria for screening and diagnosing osteoporosis are described and treatment options are discussed (lifestyle advice, vitamin D and calcium supplementation, use of bisphosphonates or other specific antiosteoporotic agents, correction of hypogonadism). Chronic glucocorticoid therapy may affect growth as well as predispose to osteoporosis. The diagnosis and management of growth failure, pubertal delay and hypogonadism in IBD are discussed.
PubMed: 24714153
DOI: No ID Found