Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation

Izumi, Yasukatsu; Musha, Ikuma; Suzuki, Erina; Iso, Manami; Jinno, Tomoko; Horikawa, Reiko; Amemiya, Shin; Ogata, Tsutomu; Fukami, Maki; Ohtake, Akira

doi:10.1007/s12020-014-0434-4

Cited by 16 publications

(15 citation statements)

References 10 publications

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“…In an infant male with a micropenis or undescended testes, a magnetic resonance image (MRI) can be used as a primary diagnostic method . MRI in subjects with WS and SOX10 pathogenic variants frequently reveals hypoplasia or aplasia of the olfactory bulbs; in addition, inner ear or temporal bone abnormalities are often present . In older children, an MRI is often unnecessary and formal testing for anosmia or hyposomia can establish the diagnosis of Kallmann's syndrome .…”

Section: Discussionmentioning

confidence: 99%

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Saleem

2018

Pediatric Dermatology

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Melanocyte development is orchestrated by a complex interconnecting regulatory network of genes and synergistic interactions. Piebaldism and Waardenburg syndrome are neurocristopathies that arise from mutations in genes involved in this complex network. Our understanding of melanocyte development, Piebaldism, and Waardenburg syndrome has improved dramatically over the past decade. The diagnosis and classification of Waardenburg syndrome, first proposed in 1992 and based on phenotype, have expanded over the past three decades to include genotype. This review focuses on the current understanding of human melanocyte development and the evaluation and management of Piebaldism and Waardenburg syndrome. Management is often challenging and requires a multidisciplinary approach.

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Section: Discussionmentioning

confidence: 99%

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Saleem

2018

Pediatric Dermatology

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“…To date, SOX10 mutations have been identified in 10 patients with KS (table 1) [9,10,11]. Since hearing loss was observed in 8 of the 10 patients, deafness seems to be a consistent feature in patients with SOX10 haploinsufficiency.…”

Section: Discussionmentioning

confidence: 99%

“…In vitro transactivating function of the mutant protein was analyzed using a reporter vector containing the MITF promoter [9]. In this experiment, expression vectors for the wild-type and mutant SOX10 were transiently transfected into HEK293 cells with or without an expression vector for PAX3 .…”

Section: Methodsmentioning

confidence: 99%

“…In this experiment, expression vectors for the wild-type and mutant SOX10 were transiently transfected into HEK293 cells with or without an expression vector for PAX3 . The methods were described previously [9]. The cells were cultured in 24-well plates.…”

Section: Methodsmentioning

confidence: 99%

“…Recent studies have identified mutations in SOX10 (NM_006941.3) in a few patients with KS and hearing loss [9,10,11]. SOX10 is a transcription factor that interacts with PAX3 and regulates the development of neural crest cells [12,13].…”

Section: Introductionmentioning

confidence: 99%

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Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation

Suzuki¹,

Izumi

Chiba³

et al. 2015

Horm Res Paediatr

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Background: Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder consisting of hypogonadotropic hypogonadism and anosmia. KS is occasionally associated with deafness. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS) characterized by deafness, skin/hair/iris hypopigmentation, Hirschsprung disease, and neurological defects, have been identified in a few patients with KS and deafness. However, the current understanding of the clinical consequences of SOX10 mutations remains fragmentary. Case Report: A Japanese male patient presented with sensory deafness, blue irises, and anosmia, but no hair/skin hypopigmentation, Hirschsprung disease, or neurological abnormalities. He showed no pubertal sex development at 15.1 years of age. Blood examinations revealed low levels of FSH and testosterone. Results: Molecular analysis detected a de novo p.Leu145Pro mutation in SOX10, which has previously been reported in a patient with WS and Hirschsprung disease. The mutation was predicted to be probably damaging. The mutant protein barely exerted in vitro transactivating activity. Conclusions: These results highlight the significance of SOX10 haploinsufficiency as a genetic cause of KS with deafness. Importantly, our data imply that the same SOX10 mutations can underlie both typical WS and KS with deafness without skin/hair hypopigmentation, Hirschsprung disease, or neurological defects.

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Primary and Secondary Hypogonadism

Santi¹,

Corona²

2017

Endocrinology

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Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation

Cited by 16 publications

References 10 publications

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation

Primary and Secondary Hypogonadism

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