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Related Concept Videos

Introduction to the Skeletal System01:20

Introduction to the Skeletal System

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The skeletal system is the central framework of the body, consisting of different connective tissues: bones, cartilage, tendons, and ligaments.
Components of the Skeletal System
Bone, or osseous tissue, is a hard connective tissue that forms an internal support structure for the human body. Bones shield vulnerable organs and soft tissue from external forces. For example, the vertebral bones protect and support the spinal cord.
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The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Bones of the Lower Limb: Femur and Patella01:16

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Related Experiment Video

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Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
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Bone involvement in males with Kallmann disease.

Giovanni Iolascon1, Laura Frizzi2, Massimiliano Bianco2

  • 1Department of Medical and Surgical Specialties and Dentistry, Second University of Naples, Naples, Italy. giovanni.iolascon@gmail.com.

Aging Clinical and Experimental Research
|July 24, 2015
PubMed
Summary

Hormonal replacement therapy (HRT) duration impacts bone health in men with Kallmann syndrome (KS). Adequate HRT and vitamin D levels are crucial for maintaining bone mineral density and preventing fractures in these patients.

Keywords:
Hormone replacement therapyHypogonadotropic hypogonadismKallmann syndromeOsteoporosis

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Area of Science:

  • Endocrinology
  • Bone Metabolism
  • Genetics

Background:

  • Kallmann syndrome (KS) is a rare genetic disorder causing hypogonadotropic hypogonadism and impaired sense of smell.
  • Male KS patients often experience delayed puberty, low testosterone, and an increased risk of osteoporosis, necessitating lifelong hormonal replacement therapy (HRT).

Purpose of the Study:

  • To evaluate bone health in male patients with Kallmann syndrome undergoing HRT.
  • To determine the relationship between HRT duration, vitamin D status, and bone mineral density (BMD) in KS patients.

Main Methods:

  • Retrospective analysis of medical records from 32 male KS patients on HRT.
  • Bone mineral density (BMD) assessment at the lumbar spine, femoral neck, and total body less head using DXA.
  • Vertebral Fracture Assessment (VFA) to identify vertebral deformities.

Main Results:

  • 12.5% of patients had low lumbar spine BMD Z-scores; 5 patients showed vertebral deformities.
  • Longer HRT duration (>2 years) correlated with higher BMD compared to shorter duration (<6 months).
  • Vitamin D deficiency was prevalent (43%) and associated with shorter HRT duration.

Conclusions:

  • Early initiation and adequate duration of HRT are vital for maintaining bone health in male KS patients.
  • Ensuring vitamin D sufficiency may also be beneficial for bone health in this population.