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Congenital Hypothyroidism without Goiter


Presentation

  • The c.1A T change in another patient affects a putative translation start codon, but the same change was present in his healthy brother.[ncbi.nlm.nih.gov]
Recurrent Infection
  • Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection.[ncbi.nlm.nih.gov]
  • CONCLUSIONS: Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection.[mct8.info]
  • infections Respiratory failure Micropenis Hypoplasia of the brainstem Respiratory insufficiency Congenital sensorineural hearing impairment Protruding ear Triangular face Postural instability Nephrolithiasis Nephrocalcinosis Hydrops fetalis Calcinosis[mendelian.co]
  • Recurrent infections, hypotonia, and mental retarda- tion caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 118, e1687e1695. 44.[vdocuments.net]
Cerebral Palsy
  • We describe the clinical features and course of four adults in a family with Allan-Herndon-Dudley syndrome with athetoid type cerebral palsy. We identified an MCT8 gene mutation in this family.[ncbi.nlm.nih.gov]
  • PATIENTS: We describe the clinical features and course of four adults in a family with Allan-Herndon-Dudley syndrome with athetoid type cerebral palsy. RESULTS:We identified an MCT8 gene mutation in this family.[mct8.info]
  • HH Elsedfy, MK El, RT Hamza, A Hamed, M Elalfy ‏ Pediatric endocrinology reviews: PER 8, 295-299 , 2011 ‏ 21 2011 Growth hormone deficiency in children and adolescents with cerebral palsy: relation to gross motor function and degree of spasticity‏ RT[scholar.google.com.eg]
Recurrent Respiratory Infections
  • respiratory infections Recurrent infections Respiratory failure Micropenis Hypoplasia of the brainstem Respiratory insufficiency Congenital sensorineural hearing impairment Protruding ear Triangular face Postural instability Nephrolithiasis Nephrocalcinosis[mendelian.co]
  • Approximately 75% also have recurrent respiratory infections.[ncbi.nlm.nih.gov]
Aspiration
  • Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection.[ncbi.nlm.nih.gov]
  • CONCLUSIONS: Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection.[mct8.info]
  • Side effects range from heart rhytym irregularities and aspiration due to avid suckling. In the case of overtreatment, craniosyntosis or a change in skull growth pattern can occur before the baby’s brain is completely formed.[thyroidbasics.com]
  • May-Thurner Syndrome McCune Albright syndrome McDonough Syndrome McKusick Kaufman Syndrome McPherson Clemens Syndrome McPherson Robertson Cammarano Syndrome Meacham Winn Culler Syndrome Meckel syndrome Meckel-Like Cerebrorenodigital Syndrome meconium aspiration[rgd.mcw.edu]
Pneumonia
  • Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection.[ncbi.nlm.nih.gov]
  • CONCLUSIONS: Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection.[mct8.info]
Cup-Shaped Ears
  • Cup-shaped ears, thickening of the nose and ears, upturned earlobes, and a decrease in facial creases are also reported. Neuromuscular. Truncal hypotonia persists into adulthood.[ncbi.nlm.nih.gov]
Esotropia
  • All affected siblings presented with classic findings of Allan-Herndon-Dudley syndrome, and each of the siblings also developed intermittent esotropia.[ncbi.nlm.nih.gov]
Suggestibility
  • This group of affected siblings represents the first consistent documentation of strabismus in Allan-Herndon-Dudley syndrome, suggesting a possible association between this clinical finding and the neurologic syndrome.[ncbi.nlm.nih.gov]
  • X-linked inheritance suggested. Bibliography W. Allan, C. N. Herndon, F. C. Dudley: Some examples of the inheritance of mental deficiency; apparently sex-linked idiocy and microcephaly.[whonamedit.com]
Psychomotor Retardation
  • However, the brain is hypothyroid, causing incapacitating psychomotor retardation. Therapeutic attempts with PTU Levothyroxine or the T3-analogue DITPA could normalize TH derangements without neurological improvement.[hdl.handle.net]
  • These patients presented with psychomotor retardation and characteristic thyroid function abnormalities, such as elevated T3 and low T4 levels.[ncbi.nlm.nih.gov]
  • Dudley William Allan An X-linked mental retardation/multiple congenital anomaly syndrome characterized by psychomotor retardation, long thin face, severe hypotonia, joint contractures, and hyporeflexia. Male. Normal at birth but for hypotonia.[whonamedit.com]
Large Anterior Fontanels
  • This patient had a classic AHDS phenotype with an unexpectedly large anterior fontanel and delayed bone age and dentition.[ncbi.nlm.nih.gov]
Spastic Paraplegia
  • Allan-Herndon-Dudley syndrome (AHDS), an X linked condition, is characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia and spastic paraplegia in combination with altered TH levels, in particular, high serum[ncbi.nlm.nih.gov]
Dysarthria
  • Allan-Herndon-Dudley syndrome, an X-linked condition characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia, is associated with defects in the monocarboxylate transporter 8 gene (MCT8[ncbi.nlm.nih.gov]
Hyporeflexia
  • Dudley William Allan An X-linked mental retardation/multiple congenital anomaly syndrome characterized by psychomotor retardation, long thin face, severe hypotonia, joint contractures, and hyporeflexia. Male. Normal at birth but for hypotonia.[whonamedit.com]
  • The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity.[mendelian.co]
  • As adults, affected individuals may have generalized muscular wasting (atrophy), permanent fixation of multiple small and large joints in various fixed postures (joint contractures) and/or decreased reflex reactions (hyporeflexia).[rarediseases.org]

Workup

Cholesterol Increased
  • Cholesterol increased in two subjects. There was no weight loss and weight gain occurred in two. None of the treated children required a gastric feeding tube or developed seizures. No adverse effects were observed.[ncbi.nlm.nih.gov]
  • Indeed, heart rate and SHBG declined significantly in all four children, whereas cholesterol increased in two and ferritin declined in one.[doi.org]

Treatment

  • Iodothyronines in CSF are low irrespective of treatment, suggesting blood-CSF barrier transport of T3-T4 is restricted in AHDS.[hdl.handle.net]
  • The current trial will investigate if Triac treatment in ADHS patients reduces the toxic effects of the high T3 levels restores the local TH deficiency in brain.[clinicaltrials.gov]
  • Treatment with thyroid hormone is ineffective.[ncbi.nlm.nih.gov]

Prognosis

  • The long-term prognosis of Allan-Herndon-Dudley syndrome remains uncertain. We describe the clinical features and course of four adults in a family with Allan-Herndon-Dudley syndrome with athetoid type cerebral palsy.[ncbi.nlm.nih.gov]
  • Diagnosis - Bamforth syndrome Prognosis - Bamforth syndrome Prognosis is good with proper treatment and children can have normal growth and development. Treatment - Bamforth syndrome Not supplied. Resources - Bamforth syndrome[checkorphan.org]
  • Prognosis With proper treatment adherence the prognosis is good and children can have normal physical growth, pubertal development, and anterior pituitary function.[rarediseases.info.nih.gov]
  • The long-term prognosis of Allan-Herndon-Dudley syndrome remains uncertain. PATIENTS: We describe the clinical features and course of four adults in a family with Allan-Herndon-Dudley syndrome with athetoid type cerebral palsy.[mct8.info]

Etiology

  • Although the prevalence is unknown, one study identified AHDS in 1.4% of males with intellectual disability of unknown etiology. Only males are affected.[orpha.net]
  • 2. secondary/central hypothyroidism 3. peripheral hypothyroidism Also, 1. permanent CH 2. transient CH Etiology of secondary/central hypothyroidism deficiency of thyroid stimulating hormone Etiology of peripheral hypothyroidism defects of thyroid hormone[quizlet.com]
  • "Perspective: genetic defects in the etiology of congenital hypothyroidism". Endocrinology . 143 (6): 2019–24. doi : 10.1210/en.143.6.2019 . PMID 12021164 . Venza I, Visalli M, Parrillo L, De Felice M, Teti D, Venza M (March 2011).[wikiwand.com]
  • CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies.[sprout038.sprout.yale.edu]

Epidemiology

  • Summary Epidemiology At least 132 families with 320 affected individuals have been reported in the literature to date. Although the prevalence is unknown, one study identified AHDS in 1.4% of males with intellectual disability of unknown etiology.[orpha.net]
  • Epidemiology Only 8 patients from 6 families have been reported to date.[rarediseases.info.nih.gov]
  • […] children with simple obesity in relation to body mass index‏ EA Abdel-Aziz, RT Hamza, AM Youssef, FM Mohammed ‏ Egyptian Journal of Medical Human Genetics 15 (2), 149-154 , 2014 ‏ 17 2014 Penile length and genital anomalies in Egyptian male newborns: epidemiology[scholar.google.com.eg]
  • PMID:11689700 Epidemiological study of hepatitis B and C in a municipality with rural characteristics: Cássia dos Coqueiros, State of Sà o Paulo, Brazil.[science.gov]
  • As described in the Etiology, Epidemiology and Genetic Counseling sections, while dysgenesis appears sporadic, there are clues to some familial/genetic factors.[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • Karger AG, Basel References Heuer H, Visser TJ: Minireview: pathophysiological importance of thyroid hormone transporters. Endocrinology 2009;150:1078-1083.[karger.com]
  • Mol Endocrinol 25 : 1 – 14 8. 2009 Minireview: pathophysiological importance of thyroid hormone transporters. Endocrinology 150 : 1078 – 1083 9. 2006 Tissue specific thyroid hormone deprivation and excess in Mct8 deficient mice.[doi.org]
  • Genetics and pathophysiology of mental retarda- tion. Eur. J. Hum. Genet. 14, 701713. 19. Ropers, H.H., and Hamel, B.C. (2005). X-linked mental retardation. Nat. Rev. Genet. 6, 4657. 20. Kleefstra, T., and Hamel, B.C. (2006).[vdocuments.net]
  • Google Scholar GeneTests: [ ] EuroGentest: [ ] Perry R, Heinrichs C, Bourdoux P, Khoury K, Szots F, Dussault JH, Vassart G, Van Vliet G: Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology[ojrd.biomedcentral.com]

Prevention

  • Mutations in the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) prevent appropriate entry of thyroid hormones into brain cells during development and cause severe mental retardation in affected patients.[ncbi.nlm.nih.gov]
  • Currently, Bamforth-Lazarus Syndrome may not be preventable, since it is a genetic disorder.[dovemed.com]
  • Prevention - Bamforth syndrome Not supplied. Diagnosis - Bamforth syndrome Prognosis - Bamforth syndrome Prognosis is good with proper treatment and children can have normal growth and development. Treatment - Bamforth syndrome Not supplied.[checkorphan.org]
  • […] accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 5 October 2017 recommending the granting of this designation. the seriousness of the condition; the existence of alternative methods of diagnosis, prevention[ema.europa.eu]

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