Familial syndrome of endocrine and neuroectodermal abnormalities

Oerter, Karen E.; Friedman, Theodore C.; Anderson, Hans C.; Cassorla, Fernando

doi:10.1002/ajmg.1320440421

Cited by 11 publications

(8 citation statements)

References 10 publications

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“…Woodhouse Sakati syndrome is a rare autosomal recessive disorder. To date about 25 families1–12 have been described (Table 1), mostly from the Middle East (Saudi Arabia, Jordan, Lebanon, Turkey), where consanguinity is not uncommon. Our patients were from a consanguineous family and from that region.…”

Section: Discussionmentioning

confidence: 99%

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Dystonia in the Woodhouse Sakati syndrome: A new family and literature review

Schneider¹,

Bhatia²

2008

Movement Disorders

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Woodhouse Sakati syndrome is a rare autosomal recessive neuroendocrine disorder characterized by the combination of alopecia, hypogonadism, diabetes mellitus, mental retardation, sensory neural deafness and extrapyramidal features. Movement disorders mainly consist of dystonia and chorea of the limbs with onset in adolescence. Facial muscles are usually spared, but dysarthria is common. Pyramidal features and peripheral abnormalities are inconsistent features. Most of the reported families are from the Middle Eastern countries although rarely Caucasian cases have been described. Here we present clinical details of two affected siblings from a new Middle East family and draw attention of movement disorder specialists to this entity. We summarize findings from pervious cases with particular focus on neurological and movement disorder features.

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Section: Discussionmentioning

confidence: 99%

“…Thyroid dysfunction was found present in 30% of cases 1, 11, 12. T‐wave abnormalities may be seen on ECG 2, 7, 12…”

Section: Discussionmentioning

confidence: 99%

Dystonia in the Woodhouse Sakati syndrome: A new family and literature review

Schneider¹,

Bhatia²

2008

Movement Disorders

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“…In addition, both GH and IGF‐1 have independent actions, many of which have become apparent recently following the characterization of clinical syndromes and the development of mouse models. Most IGF‐1 originates from the liver and that body growth is controlled by the concentration of IGF‐I in the blood [Holder et al, 1981; Guler et al, 1988]; Crandall et al 1973 and Oerter et al 1992 have demonstrated subnormal and borderline GH level after provocative tests in some of their cases but IGF‐1 is not mentioned in these studies. A recent study demonstrated that IGF‐1 levels are often normal in patients with total anterior hypopituitarism and the liver‐derived IGF‐1 is the main determinant of serum IGF [Sjögren et al, 1999].…”

Section: Discussionmentioning

confidence: 99%

“…Hypogonadism is a component of various hereditary disorders such Bardet–Biedl syndrome [Reinfrank and Nichols, 1964], Kallmann [Kallman et al, 1944], and Prader–Willi syndromes [Hall and Smith, 1972], but alopecia, deafness, diabetes mellitus, and white matter disease are not described in these syndromes. Other syndromes have been described in which these manifestations, together with mental retardation and/or electrocardiographic abnormalities, variously accompany hypogonadotropic hypogonadism [Crandall et al, 1973; Salti and Salem, 1979; Woodhouse and Sakati, 1983; Al Awadi et al, 1985; Oerter et al, 1992; Hannig and Tiller, 1995]. Devriendt et al 1996 reported a brother and sister from consanguineous parents in whom an extra‐pyramidal disorder was associated with hypogonadotropic hypogonadism and alopecia but without diabetes mellitus or deafness; brain MRI showed a generalized process affecting white matter [Devriendt et al, 1996].…”

Section: Introductionmentioning

confidence: 99%

Autosomal‐recessive syndrome with alopecia, hypogonadism, progressive extra‐pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1

Alsemari

Bohlega

2006

American J of Med Genetics Pt A

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We explored the manifestations of an autosomal-recessive multisystemic disorder in several Saudi families. Recognized causes of progressive extra-pyramidal disorder and white matter disease were excluded and the neurological, imaging, endocrine, and skin manifestations of this syndrome described. The onset of these symptoms in these patients began in early adolescence and progressed more rapidly in males. All affected patients had total or partial alopecia, clinical and chemical evidence of hypogonadism (low levels of estradiol and testosterone); females had clear evidence of hypogonadism (streak or absent ovaries), and some patients had diabetes mellitus and/or sensorineural deafness. The constant biochemical abnormality was the low IGF-1. The neurological manifestations included moderate to severe intellectual decline and abnormality of muscle tone and posture with choreo-athetoid and dystonic movements resulting in gait difficulty, dysarthria, difficulty swallowing, and scoliosis. The MRI of brain demonstrated white matter involving cerebellum, brain stem, and cerebral structures, as well as abnormal decreased signal intensity in the basal ganglia with involvement of the substantia nigra. We conclude that the association of hypogonadism, alopecia, and persistent low IGF-1 is a significant autosomal recessive syndrome; it is prevalent in Saudi Arabia. We also demonstrate that the progressive extra-pyramidal disorder, white matter disease, and abnormal signals of the basal ganglia are common features of this syndrome. Sensorineural deafness and diabetes mellitus were recognized features.

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“…They reported on 2 inbred Saudi Arabian families with 7 affected individuals suffering from a combination of hypogonadism, sparse hair, diabetes mellitus, mental retardation, and mild deafness [79] . Subsequently, several other families of different ethnic origins, including a Jordanian family from Kuwait, have been described [79][80][81] . Around 54 cases have been reported in the literature so far.…”

Section: Woodhouse-sakati Syndromementioning

confidence: 99%

Consanguinity and Dysmorphology in Arabs

Al‐Gazali

Hamamy²

2014

Hum Hered

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Incidence rates of congenital disorders among the 350 million inhabitants of Arab countries could be influenced via the people's demographic and cultural characteristics. Arabs usually marry at a young age and have large families. They share certain core cultural values and beliefs, with the family accepted as the central structure of society. Consanguineous marriage is favored and respected in most if not all Arab communities, and intrafamilial unions currently account for 20-50% of all marriages. First-cousin unions are especially popular and constitute almost one quarter of all marriages in many Arab countries. Consequently, autosomal recessive (AR) dysmorphic syndromes constitute a considerable proportion of all birth defects among Arabs. Arab geneticists, with their persistent commitment to advancing research, have contributed to the description of a number of rare and new AR syndromes with the identification of novel genes. The collaboration with research teams in high-income countries resulted in a plethora of data on pathogenic variants and their function in causing dysmorphic syndromes. There could still be a considerable number of rare dysmorphic syndromes that prevail among Arabs which are not hitherto described and whose underlying molecular pathologies are not yet defined. Arab countries should thus strive to deploy DNA diagnostics and to build research capability around local priorities. Furthermore, a characterization of the prevailing genetic disorders in each geographic location, together with their mutations, is needed to plan for appropriate screening and testing protocols. An overview of consanguinity in Arab countries and examples of dysmorphology syndromes associated with consanguinity with their available molecular bases will be discussed.

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Familial syndrome of endocrine and neuroectodermal abnormalities

Cited by 11 publications

References 10 publications

Dystonia in the Woodhouse Sakati syndrome: A new family and literature review

Dystonia in the Woodhouse Sakati syndrome: A new family and literature review

Autosomal‐recessive syndrome with alopecia, hypogonadism, progressive extra‐pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1

Consanguinity and Dysmorphology in Arabs

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