Two Cases of Intellectual Disability and Hypogonadism. An Under-Recognized Association?

Paul Loughrey, Elizabeth Mae McConnell

Research output: Contribution to conferencePosterpeer-review


Evidence is increasing that hypogonadism can be secondary to a plethora of genetic abnormalities which may present at a young age. However, older patients may also present with undetected genetic pathology. We present two males with primary hypogonadism detected at age 45 and 55 years who were subsequently diagnosed with 22q11.21 deletion and 48XXXY respectively. Patient A was referred from the psychiatric service due to gynaecomastia and low serum testosterone. Past medical history includes type II diabetes mellitus, subclinical hypothyroidism, unilateral renal agenesis and developmental disorder from birth. Hormonal work-up also confirmed low insulin-like growth factor 1. Adjusted calcium was normal. An ultrasound scan established both testes were present in the scrotum with no abnormal masses. Klinefelter syndrome was in the differential diagnosis and so genetic studies were undertaken. Genetic analysis identified a 1.07Mb deletion on 22q11.21 encompassing SCARF2, SERPIND1, SNAP29, LZTR1 and P14KA. Patient B was noted to have a high pitched voice during admission for lower respiratory tract infection and primary hypogonadism was confirmed. Past medical history includes obstructive sleep apnoea and developmental disorder from birth. Magnetic resonance imaging revealed bilateral atrophic testes in the inguinal regions. Karyotyping confirmed 48XXXY. Emerging evidence suggests 22q11 deletions are associated with hypogonadism and developmental abnormalities involving cardiac, neurological and genitourinary systems. 48XXXY karyotype is a well-recognized condition of high aneuploidy known to be associated with intellectual disability. Hypogonadism-associated syndromes are under-diagnosed leading to comorbidity and impaired quality of life. A high index of suspicion is required to detect such cases.
Original languageEnglish
Publication statusPublished - 20 Nov 2020
EventIrish Endocrine Society 44th Annual Meeting -
Duration: 20 Nov 202020 Nov 2020


ConferenceIrish Endocrine Society 44th Annual Meeting


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