She is board certified in Neurology (1997-present) and is a member of the American Academy of Neurology, the American Neurological Association and the Movement Disorder Society. [books.google.com]

mild to severe mental retardation and dysarthria (slow, imprecise speech) are usually present. [ipfs.io]

Hormone replacement therapy is needed if hypogonadism is present. [en.wikipedia.org]

Hormonal replacement therapy is needed if hypogonadism is present. [marinesco-sjogren.org]

An increased risk for deep venous thrombosis is present. [ncbi.nlm.nih.gov]

• Infertility

  Discussions on the current methods for the diagnosis and treatment of male hypogonadism, male infertility and male sexual dysfunction follow, with detailed descriptions of types of androgen replacement and the benefits and risks of such treatment. [books.google.com]

  With Azoospermia Or Oligozoospermia Due To Single Gene Mutation Male Infertility With Teratozoospermia Due To Single Gene Mutation Non-Functioning Pituitary Adenoma Ovarian Dysgenesis 1 Ovarian Hyperstimulation Syndrome Perrault Syndrome 1 Ppoma Premature [familydiagnosis.com]

  HH may present as either congenital or acquired, but the majority of cases are of the former nature. [1] [2] Symptoms [ edit ] Examples of symptoms of hypogonadism include delayed, reduced, or absent puberty, low libido, and infertility. [en.wikipedia.org]

  Diseases related to Hypogonadism-Cataract Syndrome via text searches within MalaCards or GeneCards Suite gene sharing: Symptoms via clinical synopsis from OMIM: 57 GU: hypogonadism infertility testicular failure Lab: elevated follicle-stimulating hormone [malacards.org]

  This case highlights the value of obtaining a detailed history and performing a thorough physical examination as this patient’s risk of cancer, fractures, and infertility could have been dramatically reduced with an earlier diagnosis. [omicsonline.org]

• Anemia

  Articles in this issue include: Hereditary Hemochromatosis (HFE and Non-HFE); Iron Refractory Iron Deficiency Anemia (IRIDA); Sideroblastic Anemia; Anemia of Chronic Disease/Inflammation; Pathophysiology of Transfusional Iron Overload; Transfusional Iron [books.google.com]

  7) RPL35A (Diamond-Blackfan anemia 5) RPL5 (Diamond-Blackfan anemia 6) RPS10 (Diamond-Blackfan anemia 9) RPS17 (Diamond-Blackfan anemia 4) RPS19 (Diamond-Blackfan anemia 1) RPS24 (Diamond-blackfan anemia) RPS26 (Diamond-Blackfan anemia 10) RPS6KA3 (Coffin-Lowry [en.praenatal-medizin.de]

  […] lipodystrophic laminopathy Autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal recessive Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Congenital dyserythropoietic anemia [csbg.cnb.csic.es]

  Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency OMIM:235700 Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency OMIM:235370 Hemolytic Anemia with Thermal Sensitivity of Red Cells OMIM:141700 Hemolytic Poikilocytic Anemia Due [informatics.jax.org]

  ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2; rts2 Related symptoms: Growth delay Cataract Anemia Frontal bossing Diarrhea SOURCES: ORPHANET More info about ROTHMUND-THOMSON SYNDROME TYPE 2 Top 5 symptoms// [mendelian.co]

• Male Hypogonadism

  Discussions on the current methods for the diagnosis and treatment of male hypogonadism, male infertility and male sexual dysfunction follow, with detailed descriptions of types of androgen replacement and the benefits and risks of such treatment. [books.google.com]

  […] recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757 12 secondary growth hormone deficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0008240 13 reduced bone mineral density 59 Frequent (79-30%) 14 hypogonadism 32 HP:0000135 15 male [malacards.org]

  Ichthyosis and male hypogonadism 0 *Cryptorchidism *Hypogonadism *Intellectual Disability *Ichthyosis, X-Linked. Alopecia hypogonadism extrapyramidal disorder 0 *Alopecia *Basal Ganglia Diseases *Hypogonadism. [reference.md]

  Fluoxymesterone An anabolic steroid that has been used in the treatment of male HYPOGONADISM, delayed puberty in males, and in the treatment of breast neoplasms in women. Zinc A metallic element of atomic number 30 and atomic weight 65.38. [bioportfolio.com]

  […] non descent of the testicle urethral opening on the inferior side of the penis urethral opening on the superior side of the penis -a decrease in either of two major functions in the testes: 1) sperm production, or 2) testosterone production Male hypogonadism [quizlet.com]

• Movement Disorder

  In addition, he established the Rush Movement Disorder Surgery Program and serves as its Medical Director. His clinical research interests include the development of new medical and surgical therapies for patients with advanced movement disorders. [books.google.com]

  Hypogonadism has remarkable associations with variable medical disorders; however, it is characterized by a distinctive association with variable neurological disorders: such as epilepsy, ataxia, dysmyelination, nerve muscle disease, movement disorders [springermedizin.de]

  disorder Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet Friedreich ataxia Aicardi-Goutieres syndrome type 5 Corneodermatoosseous syndrome Ankyloblepharon filiforme adnatum cleft palate Renpenning syndrome [checkrare.com]

• Pathologist

  As such, it should be useful to a varied audience, including not only the oral and maxillofacial surgeon but also the oral pathologist, the practitioner of oral medicine, and members of the craniofacial team--the orthodontist, pediatric dentist, speech [books.google.com]

• Muscle Weakness

  Muscle weakness is progressive, but life expectancy is near normal. [ipfs.io]

  Muscle weakness is progressive, but life expectancy is near normal. Cause [ edit ] This section is empty. [en.wikipedia.org]

  Other characteristics of MSS involve short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness. [cags.org.ae]

  Neurologic deterioration is slow to absent and prolonged survival is possible, but the muscle weakness may be progressive in adulthood. Less commonly reported features include optic atrophy, brachydactyly, and cone epiphyses. [marinesco-sjogren.org]

  Other features include short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness. [genome.jp]

• Sparse Hair

  Associated abnormalities are small stature, brittle fingernails, sparse hair, dysarthria, hypergonadotropic hypogonadism, and scoliosis [ 2, 3 ]. [pediatricneurologybriefs.com]

  Presentation The syndrome causes cerebellar ataxia (balance and coordination problems), mental retardation, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair. [1] :578 Small stature [ipfs.io]

  Presentation [ edit ] The syndrome causes cerebellar ataxia (balance and coordination problems), mental retardation, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair. [1] : 578 [en.wikipedia.org]

  hair RHYNS syndrome Diabetes insipidus nephrogenic mental retardation and intracerebral calcification Propionic acidemia PAGOD syndrome Cone-rod dystrophy 3 Stickler syndrome Ostium secundum atrial septal defect Autosomal dominant cerebellar ataxia, [checkrare.com]

• Skin Lesion

  Eponym It is named for Gheorghe Marinescu and Torsten Sjögren. [4] See also Skin lesion List of cutaneous conditions References James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). [ipfs.io]

  Eponym [ edit ] It is named for Gheorghe Marinescu and Torsten Sjögren. [4] See also [ edit ] Skin lesion List of cutaneous conditions References [ edit ] James, William; Berger, Timothy; Elston, Dirk (2005). [en.wikipedia.org]

  Keywords Hypogonadotropic hypogonadism; Microphallus; Kallmann syndrome Case Report A 27 year old white male presented to a family medicine clinic with complaint of a changing skin lesion that was a melanoma in situ. [omicsonline.org]

• Thin Brittle Fingernails

  Presentation The syndrome causes cerebellar ataxia (balance and coordination problems), mental retardation, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair. [1] :578 Small stature [ipfs.io]

  Presentation [ edit ] The syndrome causes cerebellar ataxia (balance and coordination problems), mental retardation, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair. [1] : 578 [en.wikipedia.org]

• Dysarthria

  Physical and occupational therapy, special education, and computers are essential given their visual and motor problems as well as dysarthria. Hormonal replacement therapy is needed if hypogonadism is present. [marinesco-sjogren.org]

  Associated abnormalities are small stature, brittle fingernails, sparse hair, dysarthria, hypergonadotropic hypogonadism, and scoliosis [ 2, 3 ]. [pediatricneurologybriefs.com]

  […] ataxia (balance and coordination problems), mental retardation, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair. [1] :578 Small stature, mild to severe mental retardation and dysarthria [ipfs.io]

  Additional features include short stature, various skeletal abnormalities including scoliosis, hypergonadotropic hypogonadism, dysarthria, strabismus, and nystagmus. [egl-eurofins.com]

  […] ataxia (balance and coordination problems), mental retardation, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair. [1] : 578 Small stature, mild to severe mental retardation and dysarthria [en.wikipedia.org]

• Stroke

  He then accepted a fellowship at the National Institutes of Health, in the Experimental Therapeutics Branch of the National Institute of Neurological Disorders and Stroke in Bethesda, Maryland under Thomas N. Chase (1992-1994). [books.google.com]

  Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011 ).For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ( OMIM ). [mendelian.co]

  Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350). [ncbi.nlm.nih.gov]

  PubMed Google Scholar Hopkins SE, Somoza A, Gilbert DL: Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease. [ojrd.biomedcentral.com]

  Adenylosuccinase deficiency Torticollis, familial Renal tubular acidosis with deafness Trichothiodystrophy Mucolipidosis type 4 Maturity-onset diabetes of the young Dihydropteridine reductase deficiency Hereditary endotheliopathy, retinopathy, nephropathy, and stroke [checkrare.com]

• Paresis

  Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement [ncbi.nlm.nih.gov]

  […] deficiency syndrome Ring chromosome 9 Aplasia cutis congenita intestinal lymphangiectasia Sitosterolemia Benallegue Lacete syndrome Cutis laxa, autosomal dominant PMM2-CDG (CDG-Ia) Hereditary paraganglioma-pheochromocytoma Hereditary congenital facial paresis [checkrare.com]

• Slow Speech

  On examination, the leading symptoms were difficulties with free walking, slow speech, one-sided cataract, and mild peripheral neuropathy. [thieme-connect.com]

• Sexual Dysfunction

  Discussions on the current methods for the diagnosis and treatment of male hypogonadism, male infertility and male sexual dysfunction follow, with detailed descriptions of types of androgen replacement and the benefits and risks of such treatment. [books.google.com]

  Osteoporosis, increased risk of testicular cancer secondary to cryptorchidism, sexual dysfunction, and infertility are just a few of the sequelae associated with IHH. When diagnosed early, these co morbidities can be reduced or even eliminated. [omicsonline.org]

• Dyslipidemia

  Kompoliti’s include the gender differences in Parkinson’s disease and other movement disorders, studies to define the effect of neuroleptics on weight, risk for diabetes and dyslipidemia in patients with Tourette syndrome, and define the current status [books.google.com]

  Nearly all demonstrate associated dyslipidemia. Other endocrine abnormalities can include hypothyroidism, hypogonadotropic hypogonadism in boys, and polycystic ovaries in girls. [ncbi.nlm.nih.gov]

Discussions on the current methods for the diagnosis and treatment of male hypogonadism, male infertility and male sexual dysfunction follow, with detailed descriptions of types of androgen replacement and the benefits and risks of such treatment. [books.google.com]

Treatment Treatment for MSS is symptomatic and supportive including physical and occupational therapy, speech therapy, and special education. Cataracts must be removed when vision is impaired, generally in the first decade of life. [ipfs.io]

Treatment [ edit ] Treatment for MSS is symptomatic and supportive including physical and occupational therapy, speech therapy, and special education. Cataracts must be removed when vision is impaired, generally in the first decade of life. [en.wikipedia.org]

It is not clear to what extent combined immunosuppressive treatment can be effective in the treatment of this disease, which typically does not respond to treatment with steroids. [bloodjournal.org]

prognosis? -damage to the Leydig cells impairs testosterone production and/or damages the seminiferous tubules, with resulting oligospermia or azoospermia and elevated LH and FSH, in a setting of low testosterone. [quizlet.com]

Prenatal diagnosed 45,X/46,XY or 45,X/46,XX mosaicism have a very different prognosis compared to nonmosaic 45,X. In large studies of prenatally diagnosed 45,X mosaicism with 45,X/46,XY, more than 90% of cases have a normal male phenotype. [clinicaladvisor.com]

Parents should talk to their children’s physician and medical team about their child, potential associated symptoms and overall prognosis. 1) Coloboma and other eye abnormalities A coloboma (plural colobomata or colobomas) consists of the partial absence [rarediseases.org]

PMID: 6401925 Prognosis França MM, Lerario AM, Funari MFA, Nishi MY, Narcizo AM, de Mello MP, Guerra-Junior G, Maciel-Guerra AT, Mendonça BB Sex Dev 2017;11(3):137-142. Epub 2017 Jun 8 doi: 10.1159/000477193. [ncbi.nlm.nih.gov]

The prognosis of hereditary haemochromatosis has improved due to earlier genetic screening. [ojrd.biomedcentral.com]

Etiology They can be etiologically subcategorised into those with and without typical peripheral nervous system involvement (usually based on nerve conduction studies): with typical peripheral nervous system involvement hypomyelination with congenital [radiopaedia.org]

[…] which may be 1º, due to a lack of end organ response to FSH or LH produced normally by an intact pituitary gland–hypergonadotropic hypogonadism, or 2º to defective hypothalamic or pituitary hormonal activity–hypogonadotropic hypogonadism Hypogonadism, etiology [medical-dictionary.thefreedictionary.com]

Causes [ edit ] There are a multitude of different etiologies of HH. [en.wikipedia.org]

The etiology of the condition can be congenital or secondary to other problems. [clinicaladvisor.com]

Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. [bioportfolio.com]

[…] mellitus Synonym(s): (no synonyms) Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

: Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. [genome.jp]

Articles in this issue include: Hereditary Hemochromatosis (HFE and Non-HFE); Iron Refractory Iron Deficiency Anemia (IRIDA); Sideroblastic Anemia; Anemia of Chronic Disease/Inflammation; Pathophysiology of Transfusional Iron Overload; Transfusional Iron [books.google.com]

References Seminara S B, Hayes F J, Crowley Jr W F (1998) Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropichypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. [omicsonline.org]

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium. N Engl J Med 1996; 335(25):1870-1878. Nakae J, Tajima T, Sugawara T et al. [endocrine.gr]

The postulated genetic locus is described in Pathophysiology, with most notably being mutation of the AIRE gene. Environmental Precipitators of autoimmunity exist, but they continue to be elusive. [emedicine.medscape.com]

On the whole, the pathophysiology of endocrine dysfunctions in IEM remains poorly understood. [ojrd.biomedcentral.com]

Late bacterial and viral infections have been extensively reviewed, and guidelines for preventing and treating these opportunistic infections after SCT are proposed in a document published under the hospice of the Centers for Disease Control and Prevention [bloodjournal.org]

If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. [ncbi.nlm.nih.gov]

It also prevents closure of the potassium channels, inducing a defect in insulin secretion [ 13 – 15 ]. Insulin sensitivity in skeletal muscle is also decreased [ 15 ]. [ojrd.biomedcentral.com]