Peripheral neuropathy and 46XY gonadal dysgenesis: A heterogeneous entity

Baets, Jonathan; Dierick, Ines; Groote, Chantal Ceuterick‐de; Ende, Jenneke van den; Martin, Jean-Jacques; Geens, Karin; Robberecht, Wim; Nelis, Eva; Timmerman, Vincent; Jonghe, Peter De

doi:10.1016/j.nmd.2008.11.006

Cited by 11 publications

(5 citation statements)

References 16 publications

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“…Similar cases were reported subsequently, and a desert hedgehog homolog ( DHH) gene mutation was found in one patient and the patient´s father, indicating that the DHH protein might be involved in the formation and maintenance of the perineurium [17]. Cases of hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis [18], of MFNP in a patient with 46XY gonadal dysgenesis and normal DHH gene [19], of MFNP in a patient with normal karyotype [20], and of motor-sensory neuropathy without minifascicles in 46XY gonadal dysgenesis have also been reported [21]. …”

Section: Minifascicular Neuropathy (Mim 607080)supporting

confidence: 73%

Localized hypertrophic neuropathy, intraneural perineurioma, polyneuropathy with perineurial cell hyperplasia, and minifascicular neuropathy

Weis

2014

Peripheral Nerve Disorders

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Section: Minifascicular Neuropathy (Mim 607080)supporting

confidence: 73%

Localized hypertrophic neuropathy, intraneural perineurioma, polyneuropathy with perineurial cell hyperplasia, and minifascicular neuropathy

Weis

2014

Peripheral Nerve Disorders

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“…The finding in this study indicates that we should always give attention to structural variants, even if standard exome sequencing did not reveal mutations. The causative mutations of a patient with minifascicular neuropathy3 and a patient showing 46XY GD and neuropathy without minifascicular formation18 have not been identified. There may be clinical and genetic heterogeneity of this rare clinical entity, but our finding suggests that mutations that may have been overlooked by Sanger sequencing or standard exome sequencing should be assessed in these patients.…”

Section: Discussionmentioning

confidence: 99%

Partial duplication of DHH causes minifascicular neuropathy

Sato

Maekawa

Ishiura

et al. 2017

Ann Clin Transl Neurol

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Minifascicular neuropathy (MN) is an extremely rare developmental malformation in which peripheral nerves are composed of many small fascicles. Only one patient with MN with 46XY gonadal dysgenesis (GD) was found to carry a mutation affecting the start codon in desert hedgehog (DHH). We identified an identical novel rearrangement mutation of DHH in two consanguineous families with MN, confirming mutations in DHH cause MN with 46XY GD. The patients with the 46XY karyotype developed GD, whereas a patient with the 46XX karyotype did not. These findings further support that DHH has important roles in perineural formation and male gonadal differentiation.

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“…The neural system remains largely unexplored in non-chromosomal DSD. Several cases of 46,XY DSD have been associated with sensorimotor neuropathy, suggesting a heterogeneous molecular genetic basis for the neurological complications 128 . The X-linked α-thalassemia mental retardation (ATRX) syndrome is associated with genital abnormalities ranging from cryptorchidism to streak gonads and female-looking external genitalia in up to 80% of affected individuals who have a 46,XY karyotype 129 .…”

Section: Bone Mineralization and Osteoporosismentioning

confidence: 99%

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

et al. 2018

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The term differences of sex development (DSDs; also known as disorders of sex development) refers to a heterogeneous group of congenital conditions affecting human sex determination and differentiation. Several reports highlighting suboptimal physical and psychosexual outcomes in individuals who have a DSD led to a radical revision of nomenclature and management a decade ago. Whereas the resulting recommendations for holistic, multidisciplinary care seem to have been implemented rapidly in specialized paediatric services around the world, adolescents often experience difficulties in finding access to expert adult care and gradually or abruptly cease medical follow-up. Many adults with a DSD have health-related questions that remain unanswered owing to a lack of evidence pertaining to the natural evolution of the various conditions in later life stages. This Consensus Statement, developed by a European multidisciplinary group of experts, including patient representatives, summarizes evidence-based and experience-based recommendations for lifelong care and data collection in individuals with a DSD across ages and highlights clinical research priorities. By doing so, we hope to contribute to improving understanding and management of these conditions by involved medical professionals. In addition, we hope to give impetus to multicentre studies that will shed light on outcomes and comorbidities of DSD conditions across the lifespan.

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Peripheral neuropathy and 46XY gonadal dysgenesis: A heterogeneous entity

Cited by 11 publications

References 16 publications

Localized hypertrophic neuropathy, intraneural perineurioma, polyneuropathy with perineurial cell hyperplasia, and minifascicular neuropathy

Localized hypertrophic neuropathy, intraneural perineurioma, polyneuropathy with perineurial cell hyperplasia, and minifascicular neuropathy

Partial duplication of DHH causes minifascicular neuropathy

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

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