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]

Hypotonia and severe intellectual deficit are present in 100% of patients. Severe psychomotor delay is present from the outset (delay of motor and language milestones) and autonomy is never reached. [orpha.net]

Many SLC16A2 mutations have been reported. 5 In the present study, we identified SLC16A2 mutations in two different patients who initially presented with phenotypes mimicking those of PMD. [nature.com]

• Cup-Shaped Ears

  Ear length is above the 97 th centile in about half of adults. 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]

• 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]

  Keisuke Wakusawa MD, PhD, Soichiro Tanaka MD, Keiko Shimojima MD, PhD, Toshiyuki Yamamoto MD, PhD, Kazuhiro Haginoya MD, PhD Abstract: BACKGROUND: Allan-Herndon-Dudley syndrome, an X-linked condition characterized by severe intellectual disability, dysarthria [mct8.info]

• Opisthotonus

  He showed hypertonus of his extremities and often displayed an asymmetrical tonic neck reflex posture with opisthotonus. He could neither turn over nor sit. [nature.com]

• Neurologic Manifestation

  Some female carriers may have mild serum thyroid hormone abnormalities but no neurologic manifestations. Both point mutations and partial gene deletions have been reported in this gene. [egl-eurofins.com]

• Shuffling Gait

  Due to hypotonia, severely reduced motor development, and other abnormalities, affected children very rarely develop any ability to walk and when they do, it is with shuffling gait. [rarediseases.org]

Iodothyronines in CSF are low irrespective of treatment, suggesting blood-CSF barrier transport of T3-T4 is restricted in AHDS. [hdl.handle.net]

Management and treatment Thyroid hormone replacement therapy is the standard treatment for those with Bamforth-Lazarus syndrome and should be started as soon as possible. [rarediseases.info.nih.gov]

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 for hypothyroidism does not appear to be beneficial. [orpha.net]

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]

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]

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]

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]

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]

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 São 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]

Karger AG, Basel References Heuer H, Visser TJ: Minireview: pathophysiological importance of thyroid hormone transporters. Endocrinology 2009;150:1078-1083. [karger.com]

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]

[…] www.genetests.org ] EuroGentest: [ http://www.eurogentest.org ] 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]

Currently, Bamforth-Lazarus Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

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]

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]