Kallmann syndrome (KS), a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone producing neurons. The authors report a case of a 26-year-old Filipino male who presented with eunuchoid body proportion, absence of facial and axillary hair and sparse pubic hair, micropenis and bilaterally descended prepubertal testes. Associated findings were hyposmia, high pitched voice, absence of puncta and smooth philtrum. Hormonal assay showed hypogonadotropic hypogonadism. He has normal male karyotype. Ultrasonography revealed no renal abnormalities. MRI of the brain showed hypoplastic left olfactory bulb and aplastic right olfactory bulb. These findings are characteristic of KS. Androgen replacement with testosterone was started to induce virilisation. Our patient is now on regular follow-up to monitor response to treatment.
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http://dx.doi.org/10.1136/bcr.01.2011.3727 | DOI Listing |
Spec Care Dentist
January 2025
Department of Oral and Maxillofacial Pathology, School of Dentistry, Universidade de Pernambuco, Recife, Pernambuco, Brazil.
Aims: Kallmann syndrome (KS) is a rare genetic disorder characterized by congenital hypogonadotropic hypogonadism and varied clinical features. Despite its recognition, the oral and maxillofacial manifestations remain poorly understood. This study synthesized clinical aspects and management of KS-related oral and maxillofacial alterations.
View Article and Find Full Text PDFIntroduction And Objectives: Isolated hypogonadotropic hypogonadism (IHH) may be associated with pituitary gland and olfactory system disorders. We aimed to correlate findings of magnetic resonance imaging (MRI) of the pituitary gland and olfactory system in IHH patients with the patients' olfactory phenotype.
Patients And Methods: The present research was a single-center retrospective case-control study.
J Pediatr Endocrinol Metab
December 2024
Department of Pediatrics, Division of Endocrinology and Diabetes/The Ohio State University/Nationwide Children's Hospital, Columbus, OH, USA.
Background: Kallmann syndrome (KS) is a rare genetic disorder marked by hypogonadotropic hypogonadism and either anosmia or hyposmia. It exhibits genetic heterogeneity, with mutations identified in only 30 % of cases, involving various genes such as KAL1, FGFR1, FGF8, CHD7, and SOX10. Here, we present a case of gonadotropin deficiency associated with KS, observed in both a mother and her daughter, the latter conceived through assisted reproductive technology using the mother's ovum.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
December 2024
Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK.
Context: Congenital hypogonadotropic hypogonadism (CHH) is defined as an isolated deficiency of gonadotropin hormones. Mini-puberty, a transient postnatal activation of the hypothalamic-pituitary-gonadal axis in healthy infants, provides a window of opportunity to diagnose and treat CHH. Currently, in male infants with CHH, testosterone is used to increase phallus size.
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