ArticleInternational journal of pediatric endocrinology2017
A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.
Article in International journal of pediatric endocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 6 citations in OpenAlex.
- Giant Right Atrial Aneurysm: Observation Versus Intervention.JACC. Case reports · 2026Article
- Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development.JCI insight · 2020Article
- Coexistence of genetic conditions: exploring a possible relationship.Sudanese journal of paediatrics · 2019Article
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11 authors at 2 institutions in 1 country.
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Abstract
backgroundWe report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). CASE PRESENTATION: Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no breast development and other findings consistent with hypogonadotropic hypogonadism. At age 37, she underwent whole exome sequencing (WES) to identify pathogenic variants. WES revealed compound heterozygous variants in
conclusionThis case highlights an individual with VMS, characterized by compound heterozygous variants in
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