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

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]

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]

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

• Weakness

  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]

  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]

  Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. [egl-eurofins.com]

• Hyposmia

  Hypergalactosemia Galactosuria Impairment of galactose metabolism Cleft palate Visual loss Failure of eruption of permanent teeth Bifid uvula Gynecomastia Amblyopia Anophthalmia External genital hypoplasia Submucous cleft hard palate Misalignment of teeth Hyposmia [mendelian.co]

  KS was diagnosed by hyposmia or anosmia, documented by olfactometry, and/or hypoplasia or aplasia of the olfactive bulbs on magnetic resonance imaging (MRI). [journals.plos.org]

• Microstomia

  Fine-Lubinsky syndrome was described in 1993, as a very rare syndrome which entails craniofacial anomalies, bilateral hearing loss, cataract, microstomia (small mouth), central nervous system abnormalities and psychomotor delay. [ora.uniurb.it]

  Narrow mouth Microstomia, Small oral aperture, Small mouth [more] Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). [rarediseases.oscar.ncsu.edu]

  Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Dextrocardia Peters plus syndrome Macroglossia Acromelic frontonasal dysostosis Minicore myopathy, antenatal onset, with arthrogryposis Malignant hyperthermia Agnathia-microstomia-synotia [checkrare.com]

• 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]

  Saethre-Chotzen syndrome Rh deficiency syndrome Rhizomelic chondrodysplasia punctata type 2 Camptodactyly syndrome Guadalajara type 2 Marinesco-Sjogren syndrome Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly Taurodontia, absent teeth, sparse [checkrare.com]

• Eruptions

  […] bulb Keratoconus Inguinal hernia Hyperbilirubinemia Increased intracranial pressure Prolonged neonatal jaundice Juvenile cataract Presenile cataracts Hypergalactosemia Galactosuria Impairment of galactose metabolism Cleft palate Visual loss Failure of eruption [mendelian.co]

  […] permanent teeth and thinning and tapering of the roots of erupted permanent molars or incisors. 97-100 Caries are found more frequently in patients who have received a transplant compared with age-matched healthy children. [bloodjournal.org]

• Night Blindness

  Hydrocephalus Brachycephaly Mandibular prognathia Telecanthus Carious teeth Arachnodactyly Cerebral calcification Abnormality of the cardiovascular system Carcinoma Abnormality of the retinal vasculature Ichthyosis Abnormality of the testis Progressive night [mendelian.co]

  blindness, congenital stationary, type 2B) CACNA1A (Episodic ataxia, type 2) CACNA1C (Brugada syndrome 3) CACNA1F (Aland Island eye disease) CACNA1S (Hypokalemic periodic paralysis type 1) CACNA2D4 (Retinal cone dystrophy 4) CACNB2 (Brugada syndrome [en.praenatal-medizin.de]

  […] disease type 9 Kaposi sarcoma Spondylocostal dysostosis Spinocerebellar degeneration and corneal dystrophy Sugarman brachydactyly Familial osteochondritis dissecans Neuropathy, hereditary motor and sensory, Russe type X-linked congenital stationary night [checkrare.com]

• Hearing Impairment

  Related symptoms: Intellectual disability Nystagmus Sensorineural hearing impairment Cataract Visual impairment SOURCES: SCTID ORPHANET More info about RETINITIS PIGMENTOSA Low match GORLIN SYNDROME Gorlin syndrome (GS) is a genodermatosis characterized [mendelian.co]

  Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound. [rarediseases.oscar.ncsu.edu]

  In most cases, absence (atresia) of the external ear canal tends to affect one ear and may cause mild hearing impairment due to inadequate transmission of sound from the external to the inner ear (conductive hearing loss). 4) Heart defects About half [rarediseases.org]

  Patients of the two excluded families had all MSS features (but the myopathic changes) plus peripheral neuropathy and optic atrophy, and various combinations of microcornea, hearing impairment, seizures, Type I diabetes, cerebral atrophy and leucoencephalopathy [nature.com]

• Brachydactyly

  (Cole P. et al. 2009) Unusual abnormalities include brachydactyly*, camptodactyly* and anomalies of the deciduous dentition. The conditions that contributed to the onset of the pathology in this specific case, are genetic recessive. [ora.uniurb.it]

  […] stature Angioma hereditary neurocutaneous Mucopolysaccharidosis type IIIC Macrozoospermia Ichthyosis prematurity syndrome Chromosome 12p duplication Acro-pectoro-renal field defect Spinal muscular atrophy 1 Facial onset sensory and motor neuronopathy Brachydactyly [checkrare.com]

  Less commonly reported features include optic atrophy, brachydactyly, and cone epiphyses. MSS is inherited as an autosomal recessive trait with complete penetrance in both sexes. [marinesco-sjogren.org]

  Hypertelorism and Tetralogy of Fallot OMIM:239800 Hypertelorism, Microtia, Facial Clefting Syndrome OMIM:614187 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness; HPPD OMIM:145420 Hypertelorism, Teebi Type; TBHS OMIM:112410 Hypertension and Brachydactyly [informatics.jax.org]

  […] of the skin Dermal atrophy Decreased nerve conduction velocity Melanoma Freckling Basal ganglia calcification Squamous cell carcinoma of the skin Cutaneous melanoma Increased cellular sensitivity to UV light Scoliosis Retinal degeneration Strabismus Brachydactyly [mendelian.co]

• Suggestibility

  The article is about a series of water activities suggested to a 35 year old woman, aimed to improve balance, maintenance of praxis schemes, strengthen abdominal muscles, increased mobility of the lumbar tract of the spinal column, pragmatic competence [ora.uniurb.it]

  SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism). [genedx.com]

  Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.[3354][3353][9143] Synonyms Brachycephaly, deafness, cataract [rarediseases.org]

  Walker et al. (1985) suggested that MSS may be a lysosomal storage disorder. [genome.jp]

  MRI of her brain suggested a primary hypomyelination, eventually shown to be because of a compound heterozygosity for mutations in the POLR3B gene, a finding typical of 4H syndrome (Omim #614381). [thieme-connect.com]

• Psychomotor Retardation

  retardation, Motor and developmental delay, Developmental delay in early childhood, Retarded psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development [rarediseases.oscar.ncsu.edu]

  Retardation and Characteristic Facies 1; IHPRF1 OMIM:616801 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2; IHPRF2 OMIM:616900 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3; IHPRF3 OMIM [informatics.jax.org]

  DEHYDROGENASE DEFICIENCY; PHGDHD 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor [mendelian.co]

  Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A "new" mental retardation syndrome. Clin Genet 1990; 37(2):111-116. επιστροφή στην κορυφή [endocrine.gr]

  All 3 patients had cataracts, ataxia, hypotonia, myopathy, spasticity, mental retardation, and skeletal deformities. [genome.jp]

• Apraxia

  Ataxia-oculomotor apraxia-1 (AOA1; 208920 ) was also found in 3 patients. HISTORY Superneau et al. (1985) pointed to a description of this syndrome reported in the Hungarian medical literature in 1904. [genome.jp]

  No ocular malformation or oculomotor apraxia were found. Both sibs had hypogonadism. At 17.5 years of age, patient 1 had primary amenorrhoea with secondary sexual development. [jmg.bmj.com]

  […] complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia [ncbi.nlm.nih.gov]

  […] syndrome 3MC syndrome Keratolytic winter erythema Genetic lipodystrophy Free sialic acid storage disease Spondyloepiphyseal dysplasia tarda X-linked Internal carotid agenesis Autosomal recessive intermediate Charcot-Marie-Tooth disease Ataxia-oculomotor apraxia [checkrare.com]

  These are mainly ophthalmic (7 cases, 15,2%) including coloboma (n = 2, associated with cataract in case 10 and with microphtalmia in case 27 with CHARGE), cataract (n = 2), strabismus (n = 2), nystagmus (n = 1) and/or oculor congenital apraxia (n = 1 [journals.plos.org]

• Slow Speech

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

• Hyperprolactinemia

  Kallmann Syndrome Congenital Hypogonaditropic Syndromes Prader-willi Syndrome Bardet-Biedl Syndrome Pituitary Insufficiency Sickle Cell Hemochromatosis Isolated LH Deficiency Isolated FSH Deficiency Hyperprolactinemia Estrogen Excess Androgen Excess X-linked [quizlet.com]

  145100 Hyperpigmentation of Eyelids OMIM:145200 Hyperpigmentation of Fuldauer and Kuijpers OMIM:145250 Hyperpigmentation with or without Hypopigmentation, Familial Progressive; OMIM:145270 Hyperproglucagonemia OMIM:616214 Hyperproinsulinemia OMIM:615555 Hyperprolactinemia [informatics.jax.org]

  Hyperglycemia-induced growth hormone release, hyperprolactinemia, insulin resistance, and coagulopathy may occur. An increased risk for deep venous thrombosis is present. [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]

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]

In general, treatment options most require lifelong treatment but for the rare cases of reversal [ 5 ]. [omicsonline.org]

Treatment [ edit ] Treatment of HH is usually with hormone replacement therapy, consisting of androgen and estrogen administration in males and females, respectively. [3] See also [ edit ] Hypogonadism Hypogonadotropic hypogonadism Hypergonadotropic hypergonadism [en.wikipedia.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]