Magnetic Resonance Imaging Findings in Kallmann Syndrome

Zeng-fang, Zhang; Sun, Xiaolin; Wang, Cuiyan; Wang, Guangbin; Zhao, Bin

doi:10.1097/rct.0000000000000334

Cited by 16 publications

(15 citation statements)

References 18 publications

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“…Anosmia, eunuchoidal proportions, cryptorchidism, or a micropenis should prompt a formal evaluation for Kallmann's syndrome, a form of congenital hypogonadotropic hypogonadism (CHH) that can result from SOX10 mutations (Table ) . 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 .…”

Section: Discussionmentioning

confidence: 99%

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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%

“…They presented similar to other subjects with WS2; however, café-au-lait spots were also present. method 53,54. 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 [55][56][57][58][59][60][61][62][63][64][65][66][67].…”

mentioning

confidence: 99%

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Saleem

2018

Pediatric Dermatology

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“…La profundidad del surco olfatorio se puede utilizar como marcador de alteraciones del desarrollo con hipoplasia/aplasia de la vía olfatoria. Un surco olfatorio ausente o hipoplásico (<8 mm) ha sido descrito tanto en el síndrome de Kallman como en la anosmia congénita aislada [12][13][14] .…”

Section: Discussionunclassified

Anosmia congénita aislada: Reporte de un caso clínico

et al. 2018

Rev. Otorrinolaringol. Cir. Cabeza Cuello

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RESUMENLos trastornos del olfato son frecuentes, aunque la anosmia e hiposmia son síntomas poco referidos, suelen afectar de forma importante la calidad de vida de los pacientes. Las causas de anosmia pueden ser adquiridas o congénitas, y la prevalencia de anosmia congénita aislada en la población general se estima en 1:10.000. En estos casos, la anosmia es el único síntoma referido por el paciente. Se presenta el caso de un paciente de sexo masculino de 23 años, sin antecedentes mórbidos de importancia, diagnosticado con anosmia congénita aislada. La historia y evaluación clínica, evaluación neuroendocrinológica, y el uso de la resonancia magnética de cerebro permitió establecer el diagnóstico final. ABSTRACTDisorders of olfaction are common, however, anosmia and hyposmia are not frequently self-reported, and these symptoms can lead to a significant impairment in quality of life. Causes of anosmia can be acquired or congenital, and the prevalence of isolated congenital anosmia is estimated to be 1:10000 in the general population. In these cases, anosmia is the only symptom referred by the patient. We hereby present the case of a 23-year-old male patient, with no prior medical history, diagnosed with isolated congenital anosmia. The findings from the medical history and physical examination, neuroendocrine evaluation, and the use of magnetic resonance imaging of the brain helped reach a final diagnosis.

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“…Additional abnormalities that may aid in the early diagnosis of the disease including synkinesia (KAL1) , dental agenesis and bony anomalies ( FGF8/FGFR1 or KAL2 ), hearing loss (CHD7, SOX10) , renal agenesis, and cleft lip and palate [reviewed in [ 9 ]]. A number MRI findings have been reported in patients with Kallmann syndrome, including absent or hypoplastic olfactory bulb and sulci in addition to hypoplastic anterior pituitary [ 10 ]. Although these findings may be useful if the clinical picture is not clear, they are not necessary for the diagnosis.…”

Section: Discussionmentioning

confidence: 99%

A Case of Male Osteoporosis: A 37-Year-Old Man with Multiple Vertebral Compression Fractures

Radi

Karaplis

2017

Case Reports in Endocrinology

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While the contributing role of testosterone to bone health is rather modest compared to other factors such as estradiol levels, male hypogonadism is associated with low bone mass and fragility fractures. Along with stimulating physical puberty by achieving virilization and a normal muscle mass and improving psychosocial wellbeing, the goals of testosterone replacement therapy in male hypogonadism also include attainment of age-specific bone mineral density. We report on a 37-year-old man who presented with multiple vertebral compression fractures several years following termination of testosterone replacement therapy for presumed constitutional delay in growth and puberty. Here, we discuss the management of congenital hypogonadotropic hypogonadism with hyposmia (Kallmann syndrome), with which the patient was ultimately diagnosed, the role of androgens in the acquisition of bone mass during puberty and its maintenance thereafter, and outline specific management strategies for patients with hypogonadism and high risk for fragility fractures.

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Magnetic Resonance Imaging Findings in Kallmann Syndrome

Abstract: Kallmann syndrome has distinctive features on MRI. Magnetic resonance imaging may aid in the diagnosis of KS in patients with ambiguous clinical findings.

Cited by 16 publications

References 18 publications

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Anosmia congénita aislada: Reporte de un caso clínico

A Case of Male Osteoporosis: A 37-Year-Old Man with Multiple Vertebral Compression Fractures

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