Girls with congenital GnRH deficiency require enough sex hormone supplementation to maintain body levels in the expected pubertal levels necessary to induce ovulation, especially when fertility is a concern.Males with primary failure of the testes will be on lifelong testosterone.Pulsatile GnRH, weekly multi-LH, or hCG and FSH can be used to induce fertility in adulthood for both males and females. Genetic or acquired defect of the hormonal pathway of puberty (hypogonadotropic hypogonadism)
Boys aged >12 years old with hypogonadotropic hypogonadism are most often treated with short-term testosterone while males with testicular failure will be on life-long testosterone. Choice of formulation (topical vs injection) is dependent on the childs and familys preference as well as on how well they tolerate side effects. Although testosterone therapy alone will result in the start of puberty, to increase fertility potential, they may need pulsatile GnRH or hCG with rFSH. hCG can be used by itself in boys with spontaneous onset of puberty from non-permanent forms of hypogonadotropic hypogonadism and rFSH can be added in cases of low sperm count after 6 to 12 months of treatment.If puberty has not started after 1 year of treatment, then permanent hypogonadotropic hypogonadism should be considered.Girls with hypogonadotropic hypogonadism are started on the same sex steroid therapy as their counterparts with a constitutional delay, however doses are gradually increased to reach full adult replacement levels. Dosage of estrogen is titrated based on the womans ability to have withdrawal bleeds and to maintain appropriate bone density. Induction of fertility must also be done through pulsatile GnRH.
The most specific screening test for vitamin D deficiency in otherwise healthy individuals is a serum 25(OH)D level. Less common causes of osteomalacia can include hereditary deficiencies of vitamin D or phosphate (which would typically be identified in childhood) or malignancy. Vitamin D and calcium supplements are measures that can be used to prevent and treat osteomalacia. Vitamin D should always be administered in conjunction with calcium supplementation (as the pair work together in the body) since most of the consequences of vitamin D deficiency are a result of impaired mineral ion homeostasis.Nursing home residents and the homebound elderly population are at particular risk for vitamin D deficiency, as these populations typically receive little sun exposure. In addition, both the efficiency of vitamin D synthesis in the skin and the absorption of vitamin D from the intestine decline with age, thus further increasing the risk in these populations. Other groups at risk include individuals with malabsorption secondary to gastrointestinal bypass surgery or celiac disease, and individuals who immigrate from warm climates to cold climates, especially women who wear traditional veils or dresses that prevent sun exposure. Signs and symptoms
Osteomalacia is a generalized bone condition in which there is inadequate mineralization of the bone. Many of the effects of the disease overlap with the more common osteoporosis, but the two diseases are significantly different.