Variable X-linked recessive hypopituitarism with evidence of gonadotropin deficiency in two pre-pubertal males
| Autor: | George E. Bacon, William B. Zipf, Robert P. Kelch |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Proband endocrine system medicine.medical_specialty Genetic Linkage medicine.drug_class Thyrotropin Hypopituitarism Biology Short stature Growth hormone deficiency Adrenocorticotropic Hormone Internal medicine Genetics medicine Humans Child Genetics (clinical) X-linked recessive inheritance Sex Chromosomes Puberty Luteinizing Hormone Gonadotropin deficiency medicine.disease Endocrinology Child Preschool Growth Hormone Gonadotropins Pituitary Follicle Stimulating Hormone Gonadotropin medicine.symptom Adrenocorticotropic hormone deficiency Pituitary Hormone-Releasing Hormones hormones hormone substitutes and hormone antagonists |
| Zdroj: | Clinical Genetics. 11:249-254 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | Two half-brothers with short stature secondary to growth hormone deficiency and a family history implicating X-linked transmission were studied extensively for other endocrine abnormalities. The proband had a normal physical examination, except for small stature and small external genitalia. ACTH and TSH release were normal. LH and FSH responses during an i.v. GnRH test were severely blunted. His half-brother also had a normal physical examination, except for severe short stature and very small external genitalia. Deficiencies of ACTH, and TSH as well as GH were documented. An i.v. GnRH test showed no LH or FSH response. These studies support the existence of an X-linked recessive form of hypopituitarism and portend the clinical usefulness of the i.v. GnRH test in evaluating gonadotropin reserve. |
| Databáze: | OpenAIRE |
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