Results 41 to 50 of about 2,952 (186)
Kallmann syndrome in a 17-year-old boy
Кубанский научный медицинский вестник, 2020 Aim. To describe a rare hereditary disease — Kallmann syndrome — in a 17-year-old boy.Materials and methods. A retrospective analysis of anamnestic information, the course of the disease, laboratory and instrumental data and treatment of a 17-year-old ...
Alla V. Burlutskaya +2 more
doaj +1 more source
Kallmann Syndrome with Syndactyly
Journal of the College of Physicians and Surgeons Pakistan, 2019 Kallmann syndrome is a rare genetic disorder marked by hypogonadotropic hypogonadism (HH) and anosmia, affecting 1 in 50,000 females. It is due to a defect of gonadotropin-releasing hormone (GnRH)-secreting neurons migration from the nasal olfactory epithelium to the basal hypothalamus.
Majdouline Boujoual +2 more
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Molecular Pathogenesis of Kallmann’s Syndrome [PDF]
Hormone Research in Paediatrics, 2006 Hypogonadotrophic hypogonadism (HH) is characterized by delayed or absent pubertal development secondary to gonadotrophin deficiency. HH can result from mutations of the gonadotrophin-releasing hormone receptor 1, the gonadotrophin β-subunits, or various transcription factors involved in pituitary gland development. HH occurs in <i>DAX1</i>
Pierre-Marc Bouloux +4 more
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Kallmann syndrome in an adolescent boy [PDF]
Pediatric Radiology, 2010 A 16-year-old boy presented with hypogonadotropic hypogonadism and congenital anosmia. MRI revealed absent olfactory bulbs and sulci and flattened gyri recti (Fig. 1). Diagnosis of Kallmann syndrome was made. An MRI of a normal brain is presented for comparison (Fig.
Atin Kumar, Manisha Jana
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Bimanual synkinesia in Kallmann’s syndrome [PDF]
BMJ Case Reports, 2019 A man aged 20 years presented with complaints of small penile size and absence of both testes in his scrotum. The same was documented at birth but no intervention was done ever since. He was tallest in the family and had two normal siblings.
Sadishkumar Kamalanathan +3 more
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Frontiers in Pediatrics, 2022 Pubertal delay in males is frequently due to constitutional delay of growth and puberty, but pathologic hypogonadism should be considered. After general illnesses and primary testicular failure are ruled out, the main differential diagnosis is central ...
Sebastián Castro +19 more
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Frontiers in Endocrinology, 2023 Culler-Jones syndrome is a rare clinical phenomenon with diverse manifestations and is prone to misdiagnosis. We report one patient who presented with a 10-year history of anosmia and a 1-year history of epididymal pain.
Yiwen Zhang +5 more
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WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System [PDF]
Endocrinology and Metabolism, 2020 WD40-repeat (WDR)-containing proteins constitute an evolutionarily conserved large protein family with a broad range of biological functions. In human proteome, WDR makes up one of the most abundant protein-protein interaction domains. Members of the WDR
Yeonjoo Kim, Soo-Hyun Kim
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Anosmia with hypogonadism: but NOT Kallmann syndrome [PDF]
BMJ Case Reports, 2017 A girl aged 16 years presented with primary amenorrhoea and absent secondary sexual characteristics. She had arhinia at birth and had undergone reconstruction twice in her childhood. Family history was unremarkable. On examination, she had a partially reconstructed nose with patent left nare, absent nasal root, hypertelorism, midfacial hypoplasia and ...
Adlyne Reena Asirvatham +2 more
openaire +3 more sources
Glia, EarlyView.OECs, SCs, and Mel derive from SCPs. Sox10Cre;YapHet;TazKO mice show impaired SC maturation, reduced Mel formation, fewer SCPs, OECs, and olfactory neurons, but normal GnRH‐1 neuron migration. ABSTRACT Olfactory Ensheathing Cells (OECs) are glial cells originating from the neural crest and are critical for bundling olfactory axons to the brain.
Ed Zandro M. Taroc +7 more
wiley +1 more source