Fetopathology and developmental pathology of the embryo and fetus: Klinefelter syndrome

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Klinefelter syndrome

Etiology

karyotype 47 XXY and its variants (additional X and Y chromosomes — 48XXXY, 48XXYY, 49XXXXY, 49XXXYY), mosaicism in 20% of the cases.

Clinical signs

incidence 1 : 500 až 1 : 1000
the risk correlates with advanced maternal age
about 60% of conceptuses with Klinefelter syndrome are spontaneously aborted
normal life span
male habitus
main symptoms:
- borderline intelligence or obvious mental retardation — the severity of mental retardation is directly related to the increasing number of extranumerary X chromosomes
- psychiatric disorders, behavioral problems, learning disabilities
- tall stature
- eunuchoid body proportions
- feminine distribution of pubic hair, sparse facial and body hair
- gynecomastia in late puberty
- osteoporosis
- infertility

No symptoms are present during intrauterine developmental period. Diagnosis usually occurs in adulthood due to hypogonadism and infertility. Minor skeletal and cardiac anomalies (mitral valve prolapse) may be present.

Macroscopic appearance

Testicular dysgenesis: testes fail to enlarge during adolescence, azoospermia/oligospermia. Infertility is seen practically in all affected individuals with 47 XXY.
External genitalia: hypospadia or cryptorchidism in some cases
Clinodactyly

Histology

Testes: seminiferous tubules are atrophic, hyalinized, germ cells are absent, Leydig cells are hyperplastic