Diseases of the Hypothalamus and the Pituitary Gland
Among males Kallmann syndrome in its fully developed form has a prevalence of about 1 in 10,000. The prevalence in males is four times higher than in females (Seminara et al. 1998). Currently the genetic defect underlying Kallmann syndrome and IHH can be
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Hermann M. Behre, Eberhard Nieschlag, Carl-Joachim Partsch, Peter Wieacker, and Manuela Simoni
Contents 12.1
Isolated/Idiopathic Hypogonadotropic Hypogonadism (IHH) and Kallmann Syndrome ............................................................... 170 12.1.1 12.1.2 12.1.3 12.1.4 12.1.5
12.2
Definition and Prevalence ......................... Etiology and Pathogenesis ........................ Clinical Picture ......................................... Diagnosis .................................................. Therapy .....................................................
170 170 172 173 174
12.5.3 12.5.4 12.5.5 12.6
Etiology and Pathogenesis ........................ Clinical Picture and Diagnosis ................. Therapy ..................................................... Bardet-Biedl and Laurence-Moon Syndromes ................................................
176 176 177 177
12.3
Cerebellar Ataxia and Hypogonadism................ 178
12.4
Congenital Adrenal Hypoplasia with Hypogonadotropic Hypogonadism ............. 178
12.5
Constitutional Delay of Development ................. 179 12.5.1 12.5.2
Normal Onset of Puberty and Definition of Delayed Puberty ........... 179 Etiology and Pathogenesis of Constitutional Delay of Puberty ........... 179
Etiology and Pathogenesis ........................ Clinical Picture ......................................... Diagnosis .................................................. Therapy .....................................................
181 182 182 182
Hypopituitarism .................................................... 182 12.7.1 12.7.2 12.7.3 12.7.4 12.7.5
Prader-(Labhart-)Willi Syndrome ...................... 176 12.2.1 12.2.2 12.2.3 12.2.4
Secondary GnRH Deficiency ............................... 181 12.6.1 12.6.2 12.6.3 12.6.4
12.7
Clinical Picture ......................................... 180 Diagnosis .................................................. 180 Treatment .................................................. 181
Etiology and Pathogenesis ........................ Clinical Picture ......................................... Diagnosis .................................................. Therapy ..................................................... Hypopituitarism in Heritable Disorders of Pituitary Development .........
182 182 182 183 183
12.8
Isolated LH or FSH Deficiency ............................ 183
12.9
Hyperprolactinemia .............................................. 184 12.9.1 12.9.2 12.9.3 12.9.4
12.10
Etiology and Pathogenesis ........................ Clinical Picture ......................................... Diagnosis .................................................. Therapy .....................................................
184 185 185 185
Gonadotropin-Secreting Tumors ......................... 187
References ........................................................................... 187
H. M. Behre () Centre for Reproductive Medicine and Andrology of the University, Ernst-Grube-Str. 40, D-06120 Halle, Germany
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