Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes

Michele, G. De; Maione, Luigi; Cocozza, Sirio; Tranfa, Mario; Pane, Chiara; Galatolo, Daniele; Rosa, Anna De; Michele, Giuseppe De; Saccà, Francesco; Filla, Alessandro

doi:10.1007/s12311-023-01549-x

Cerebellum

2023

DOI: 10.1007/s12311-023-01549-x

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Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes

G. De Michele

Luigi Maione

Sirio Cocozza

et al.

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2024

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Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216

Rochtus,

Asscherickx,

Timmers

et al. 2024

JCEM Case Reports

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Biallelic pathogenic variants in RNF216 cause a syndrome characterized by hypogonadotropic hypogonadism, cerebellar ataxia, chorea, and cognitive impairment, a combination first described as Gordon Holmes syndrome (MIM 212840). We report 2 siblings who were referred due to absent or delayed puberty. The older sibling, a 17-year-old male, presented with absence of secondary sexual characteristics and a high-pitched voice. He had normal cognitive development and no anosmia. Clinical examination revealed Tanner stage P1/G1 and bilateral gynecomastia. Blood tests showed low gonadotropin and morning testosterone levels. His 15-year-old sister was referred due to primary amenorrhea. She had spontaneous thelarche and presented with Tanner stage P3/B3. Pituitary magnetic resonance imaging was performed on the brother due to suspicion of Kallmann syndrome, revealing a normal anterior pituitary, a hypoplastic posterior pituitary, and an extensive supratentorial leuko-encephalopathy. Whole-exome sequencing revealed a homozygous pathogenic variant in RNF216 in both affected siblings. Both parents were heterozygous carriers. RNF216 pathogenic variants cause a disorder characterized by combined neurodegeneration and reproductive dysfunction. Although neurological symptoms are typically recognized first, they often seem to follow the onset of hypogonadism. This highlights the need for awareness, as hypogonadotropic hypogonadism may be the initial manifestation of this severe neuroendocrine disorder, especially in males.

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Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216

Rochtus,

Asscherickx,

Timmers

et al. 2024

JCEM Case Reports

View full text Add to dashboard Cite

show abstract

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Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes

Cited by 1 publication

References 78 publications

Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216

Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216

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