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48,XYYY syndrome

MONDO:0020469

48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.

Also known as: 48,XYYY

5 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Syndromic disease (25) Human disease (14) Aneuploidy (13) Chromosomal disorder (12) Gonosome anomaly (6) Disease of genetic or genomic mechanism (2) Chromosome Y disorder (0) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 2 Not yet finished but already full! 2 Completed 1
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  • Scientists dig into the mysteries of x and y chromosomes

    Knowledge-focused Completed

    This study looked at 112 people with known differences in their sex chromosomes (X and Y) to better understand how these variations affect health, especially infertility. Participants underwent physical exams, blood and urine tests, imaging, and sensory checks over about 5 days. …

    Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

    Last updated Jun 27, 2026 13:07 UTC

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