A case of Kallmann's syndrome is reported in a 62-year-old mentally handicapped man with clinical and laboratory characteristics of the syndrome. The literature is reviewed and the possible associations with mental handicap explored.
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| http://dx.doi.org/10.1111/j.1365-2788.1992.tb00564.x | DOI Listing |
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Oral and Maxillofacial Manifestations of Kallmann Syndrome: A Systematic Analysis of the Literature.
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.
Autosomally dominantly inherited isolated gonadotropin deficiency via maternal assisted reproduction due to SOX10 mutation.
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 PDFGonadotropin therapy for mini-puberty induction in male infants with hypogonadotropic hypogonadism: a systematic review.
J 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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