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American Family Physician Jan 2014Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals...
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome-specific growth charts and treatment guidelines are available.
Topics: Adolescent; Adult; Age Distribution; Aged; Aged, 80 and over; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Noonan Syndrome; Young Adult
PubMed: 24444506
DOI: No ID Found -
Pediatric Clinics of North America Dec 2020Gonadal dysfunction and infertility after cancer treatment are major concerns for childhood cancer survivors and their parents. Uncertainty about fertility or being... (Review)
Review
Gonadal dysfunction and infertility after cancer treatment are major concerns for childhood cancer survivors and their parents. Uncertainty about fertility or being diagnosed with infertility has a negative impact on quality of survival. In this article, determinants of gonadal damage are reviewed and consequences for fertility and pregnancies are discussed. Recommendations for screening and treatment of gonadal function are provided. These should enable timely treatment of gonadal insufficiency aiming to improve linear growth, pubertal development, and sexual functioning. Options for fertility preservation are discussed.
Topics: Antineoplastic Agents; Cancer Survivors; Child; Child Development; Drug-Related Side Effects and Adverse Reactions; Female; Genital Diseases, Female; Genital Diseases, Male; Humans; Male; Neoplasms; Radiotherapy
PubMed: 33131541
DOI: 10.1016/j.pcl.2020.08.003 -
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 -
Orphanet Journal of Rare Diseases Feb 2013First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth... (Review)
Review
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood.
Topics: Barth Syndrome; Heart Diseases; Humans; Male
PubMed: 23398819
DOI: 10.1186/1750-1172-8-23 -
Nature Communications Aug 2022Kiss1 neurons, producing kisspeptins, are essential for puberty and fertility, but their molecular regulatory mechanisms remain unfolded. Here, we report that congenital...
Kiss1 neurons, producing kisspeptins, are essential for puberty and fertility, but their molecular regulatory mechanisms remain unfolded. Here, we report that congenital ablation of the microRNA-synthesizing enzyme, Dicer, in Kiss1 cells, causes late-onset hypogonadotropic hypogonadism in both sexes, but is compatible with pubertal initiation and preserved Kiss1 neuronal populations at the infantile/juvenile period. Yet, failure to complete puberty and attain fertility is observed only in females. Kiss1-specific ablation of Dicer evokes disparate changes of Kiss1-cell numbers and Kiss1/kisspeptin expression between hypothalamic subpopulations during the pubertal-transition, with a predominant decline in arcuate-nucleus Kiss1 levels, linked to enhanced expression of its repressors, Mkrn3, Cbx7 and Eap1. Our data unveil that miRNA-biosynthesis in Kiss1 neurons is essential for pubertal completion and fertility, especially in females, but dispensable for initial reproductive maturation and neuronal survival in both sexes. Our results disclose a predominant miRNA-mediated inhibitory program of repressive signals that is key for precise regulation of Kiss1 expression and, thereby, reproductive function.
Topics: Animals; DEAD-box RNA Helicases; Female; Fertility; Kisspeptins; Male; Mice; MicroRNAs; Neurons; Ribonuclease III; Sexual Maturation
PubMed: 35945211
DOI: 10.1038/s41467-022-32347-4 -
Euroasian Journal of... 2023Autoimmune hepatitis (AIH) accounts for cases of chronic liver disease with greater incidence in females than males. It has a bimodal distribution in the age group...
UNLABELLED
Autoimmune hepatitis (AIH) accounts for cases of chronic liver disease with greater incidence in females than males. It has a bimodal distribution in the age group peaking around pubertal periods and later in the fourth to sixth decade of life. It is characterized by continual hepatocellular inflammation and necrosis which bears the potential to progress to fibrosis and cirrhosis. Approximately a third of the patients manifest with features of acute hepatitis while some patients may progress to chronic liver disease with acute liver failure manifesting in the form of jaundice and coagulopathy. Management has long involved administration of corticosteroids alone or in association with other immunosuppressants like azathioprine to achieve long-term remission. Response to therapy is significantly variable as few patients achieve remission while some may relapse, thereby becoming candidates requiring lifelong therapy. It can either present as insidious onset or acute with manifestations ranging broadly from fatigue malaise, lethargy right upper quadrant pain weight loss anorexia, and jaundice, where up to one-third of patients may have progressed to frank cirrhosis at the time of diagnosis. A 62-year female presented with complaints of facial puffiness more around the eyes, associated with profoundly reduced appetite, yellowish discoloration of the skin, conjunctiva since 1 month, and sudden onset generalized itching not associated with fever, joint pains, weight loss, vomiting, loose stools, rash, or bleeding manifestations. She was admitted for further evaluation and workup. Liver function test revealed predominant unconjugated hyperbilirubinemia with direct bilirubin of 0.7 mg/dL and indirect bilirubin of 1.6 mg/day and transaminitis. Further investigations showed significantly elevated immunoglobulin G (IgG) and 1:80 titer of antinuclear antibodies (ANAs). In view of the high suspicion of autoimmune etiologies, the patient was subjected to a liver biopsy that confirmed cirrhosis with moderate interface hepatitis in the background of negative viral serologies and substance abuse history. She was started on a steroid course on a monthly follow-up basis to ensure biochemical remission.
HOW TO CITE THIS ARTICLE
Fatima R, Mohammed V, Fatima A, . Case of Autoimmune Hepatitis. Euroasian J Hepatogastroenterol 2023;13(2):166-168.
PubMed: 38222952
DOI: 10.5005/jp-journals-10018-1413 -
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