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Inherited pericentric inversion (X)(p11.4q11.2) associated with delayed puberty and obesity in two brothers.
We report two brothers with hypogonadotropic hypogonadism (HH), obesity and short stature associated with a maternally inherited pericentric inversion (X)(p11.4q11.2). On the basis that either breakpoint might disrupt a gene whose function is critical to normal sexual development we mapped the chromosomal breakpoints using two-colour fluorescent in situ hybridisation (FISH). The position of both the Xp11.4 and Xq11.2 breakpoints was refined using a panel of ordered BAC clones. No known genes were shown to map to the breakpoint regions. While we cannot entirely exclude the possibility that association between the clinical and cytogenetic phenotypes in the family is coincidental, it is possible that the inversion is responsible for HH through alternative molecular mechanisms such as position effects.
Nutrition and pulmonary function predictors of delayed puberty in adolescent males with cystic fibrosis.
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Delayed puberty and parotitis: an unusual presentation of HIV 15 years after infection in an untreated 17-year-old Malawian.
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Delayed puberty and reversible pituitary enlargement in a girl.
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Evaluation of lumber spine bone mineral density (BMD) using dual energy x-ray absorptiometry (DXA) in 21 young men with histories of constitutionally-delayed puberty.
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Clinical review 6: Diagnosis and management of delayed puberty.
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A longitudinal evaluation of bone mineral density in adult men with histories of delayed puberty.
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Delayed puberty and peak bone mass.
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Delayed puberty.
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Delayed puberty and hypogonadism.
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Late appearance and evolution of a cortical defect in a boy with delayed puberty.
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[Recovery from delayed puberty in a case of prolactinoma].
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[Simple delayed puberty in boys].
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[The diagnosis and investigation of delayed puberty].
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[Evaluation of the results of LH-RH test in delayed puberty and hypogonadotropic hypogonadism].
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