Hypogonadism with 47 XXY is a feature of
Ans. d (Klinefelter's syndrome) (Ref: Robbins 7th edition, p.179; Harisson's internal medicine 17th edition, p. 2317)Klinefelter syndrome (XXY)# Common cause of hypogonadism seen in infertility work-up# Dysgenesis of seminiferous tubules | inhibin | FSH.# Abnormal Leydig cell function | testosterone | LH | estrogen.# Testicular atrophy, eunuchoid habitus, tall, long extremities, gynecomastia, female hair distribution. May present with developmental delay. Presence of inactivated X chromosome (Barr body).KLINFELTER'S SYNDROME# Most common genetic cause of hypogonadism6# Incidence:- 1 in 500 (Robbin's)- 1 in 1000 (Harrisions's)# C/F: Eunuchoid body habitat, Atropic testis (< 3.5 mL) (r) Gynaecomastia, Small penis ( < 2.5 cm)# Mean I.Q ... Subnormal (mental retardation uncommon)# Semiferous tubules degenerates, Leydig cells are prominent or increased# Diagnosis: FSH--with low testestorone and high estrogen level# Malignancies:| Risk| RiskCa. Breast, Ca. Lung, NHL (mediastinal), Gonadoblastoma# Educational Points:Ca Prostate (Testesterone dependent)SyndromeAssociated Malignancy Down's SyndromeALL (most common)M7 type AMLJuvenile CML Turner's SyndromeGonadoblastoma, | Ca Colon, Cystic hygroma
Down's syndrome
Turner's syndrome
Edward's syndrome
Klinefelter's syndrome
Genetics