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Selective Pituitary Hormone Deficiencies
Selective deficiencies of pituitary hormones may represent an early stage in the development of more generalized hypopituitarism. Patients must be observed for signs of other pituitary hormone deficiencies, and sellar imaging should be done at intervals to check for signs of a pituitary tumor.
Isolated growth hormone (GH) deficiency is responsible for many cases of pituitary dwarfism (see Growth Hormone Deficiency in Children). Although one autosomal dominant form of complete GH deficiency is associated with a deletion of the GH structural gene, such gene defects probably account for a minority of cases. Treatment of GH deficiency in adults < 50 yr is discussed elsewhere (see Generalized Hypopituitarism).
Isolated gonadotropin deficiency occurs in both sexes and must be distinguished from primary hypogonadism; men have low serum testosterone levels and infertility, and women have amenorrhea, low serum estrogen levels, and infertility. A eunuchoid habitus is generally present. However, patients with primary hypogonadism (see Male Hypogonadism : Etiology) have elevated levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH), whereas those with gonadotropin deficiency, either secondary (pituitary) or tertiary (hypothalamic), have low-normal, low, or unmeasurable levels of LH and FSH. Although most cases of hypogonadotropic hypogonadism involve deficiencies of both LH and FSH, in rare cases the secretion of only one is impaired. Isolated gonadotropin deficiency must also be distinguished from hypogonadotropic amenorrhea secondary to exercise, diet, or mental stress (see Amenorrhea). Although the history may be helpful, differential diagnosis may be impossible.
In Kallmann syndrome, the specific lack of gonadotropin-releasing hormone (GnRH) is associated with midline facial defects, including anosmia and cleft lip or palate (see Endocrine Disorders in Children:Secondary hypogonadism), and with color blindness. Embryologic studies have shown that GnRH neurons originally develop in the epithelium of the olfactory placode and migrate into the septal-preoptic region of the hypothalamus early in development. In at least some cases, gene defects, localized to the X chromosome in the X-linked form of the disorder and termed the KALIG-1 (Kallmann syndrome interval gene 1) gene, have been found in the adhesion proteins facilitating this neuronal migration. Administration of GnRH is not indicated.
Isolated ACTH deficiency is rare. Weakness, hypoglycemia, weight loss, and decreased axillary and pubic hair suggest the diagnosis. Blood and urinary steroid levels are low and rise to normal after ACTH replacement. Clinical and laboratory evidence of other hormonal deficiencies is absent. Treatment is with cortisol replacement, as for Addison disease (see Addison Disease : Treatment); mineralocorticoid replacement is not required.
Isolated thyroid-stimulating hormone (TSH) deficiency is likely when clinical features of hypothyroidism exist, serum TSH levels are low or not elevated, and no other pituitary hormone deficiencies exist. Serum TSH levels, as measured by immunoassay, are not always lower than normal, suggesting that the TSH secreted is biologically inactive. Administration of recombinant human TSH increases thyroid hormone levels (see Hypothyroidism).
Isolated prolactin deficiency has been noted rarely in women who fail to lactate after delivery. Basal prolactin levels are low and do not increase in response to provocative stimuli, such as thyroid-releasing hormone. Administration of prolactin is not indicated.
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