Kallmann’s syndrome

Kulkarni, M. L.; Balaji, M D; Kulkarni, Akhil M.; Sushanth, S.; Kulkarni, Bhagyavathi M.

doi:10.1007/s12098-007-0209-5

Cited by 12 publications

(5 citation statements)

References 9 publications

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“…The incidence of KS is estimated to be 1 in 8,000-10,000 males and 1 in 40,000-50,000 females [Cadman et al, 2007;Kulkarni et al, 2007]. The majority of cases are simplex; X-linked, autosomal dominant, and autosomal recessive inheritance have been described.…”

Section: Introductionmentioning

confidence: 99%

Clues to an early diagnosis of Kallmann syndrome

Kaplan

Bernstein

Kwan

et al. 2010

American J of Med Genetics Pt A

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Kallmann syndrome (KS) is defined by the association of idiopathic hypogonadotropic hypogonadism and anosmia/hyposmia. Diagnosis is frequently delayed, however, because hypogonadotropic hypogonadism is usually not apparent until puberty and individuals with anosmia/hyposmia are often unaware of this sensory deficit. Mutations in at least six genes have been associated with KS; however, the sensitivity of molecular testing is only about 30% and, therefore, the diagnosis is largely based on clinical findings. We describe the findings in six individuals with KS, which demonstrate the utility of associated anomalies in making this diagnosis. Analysis of our case series and literature review suggests the consideration of KS for males with microphallus and/or cryptorchidism and for any patient with hearing loss, renal agenesis, and/or synkinesis. Conversely, patients with features of KS should have an audiology evaluation and a renal ultrasound.

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Section: Introductionmentioning

confidence: 99%

Clues to an early diagnosis of Kallmann syndrome

Kaplan

Bernstein

Kwan

et al. 2010

American J of Med Genetics Pt A

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“…These outcomes rely not only on the cause of hydrocephalus, but also on treatment-related complications such as infections, haemorrhages leading to brain haematomas, brain injury due to Inadequate positioning of the catheter, coma, and occasionally, death (Smith 2004). They may appear shortly a er surgery, and generally within six months of shunt implantation or revision (Kulkarni 2007;Peters 2014;Sciubba 2007).…”

Section: Cochrane Database Of Systematic Reviewsmentioning

confidence: 99%

Ventriculo-peritoneal shunting devices for hydrocephalus

Garegnani

Franco

Ciapponi

et al. 2020

Cochrane Database of Systematic Reviews

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“…The inheritance of Kallman's syndrome may be X-linked, autosomal recessive or autosomal dominant with variable penetrance. [10]…”

Section: Hypothalamic – Pituitary Syndromesmentioning

confidence: 99%

The eye as a window to rare endocrine disorders

Chopra

Chander

Jacob

2012

Indian J Endocr Metab

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The human eye, as an organ, can offer critical clues to the diagnosis of various systemic illnesses. Ocular changes are common in various endocrine disorders such as diabetes mellitus and Graves’ disease. However there exist a large number of lesser known endocrine disorders where ocular involvement is significant. Awareness of these associations is the first step in the diagnosis and management of these complex patients. The rare syndromes involving the pituitary hypothalamic axis with significant ocular involvement include Septo-optic dysplasia, Kallman's syndrome, and Empty Sella syndrome all affecting the optic nerve at the optic chiasa. The syndromes involving the thyroid and parathyroid glands that have ocular manifestations and are rare include Mc Cune Albright syndrome wherein optic nerve decompression may occur due to fibrous dysplasia, primary hyperparathyroidism that may present as red eye due to scleritis and Ascher syndrome wherein ptosis occurs. Allgrove's syndrome, Cushing's disease, and Addison's disease are the rare endocrine syndromes discussed involving the adrenals and eye. Ocular involvement is also seen in gonadal syndromes such as Bardet Biedl, Turner's, Rothmund's, and Klinefelter's syndrome. This review also highlights the ocular manifestation of miscellaneous syndromes such as Werner's, Cockayne's, Wolfram's, Kearns Sayre's, and Autoimmune polyendocrine syndrome. The knowledge of these relatively uncommon endocrine disorders and their ocular manifestations will help an endocrinologist reach a diagnosis and will alert an ophthalmologist to seek specialty consultation of an endocrinologist when encountered with such cases.

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Kallmann’s syndrome

Cited by 12 publications

References 9 publications

Clues to an early diagnosis of Kallmann syndrome

Clues to an early diagnosis of Kallmann syndrome

Ventriculo-peritoneal shunting devices for hydrocephalus

The eye as a window to rare endocrine disorders

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