PITUITARY AND GONADAL FUNCTION IN PATIENTS WITH THE LAURENCE-MOON-BIEDL SYNDROME
| Autor: | R. Lisker, M. Maillard, Martha Medina, A. Pasapera, Gregorio Pérez-Palacios, Hugo Scaglia, M. Uribe |
|---|---|
| Rok vydání: | 1977 |
| Předmět: |
Adult
Male endocrine system Laurence-Moon-Biedl syndrome medicine.medical_specialty Laurence-Moon Syndrome business.industry Endocrinology Diabetes and Metabolism General Medicine Luteinizing Hormone Endocrinology Pituitary Gland Anterior Pituitary Gland Internal medicine Testis Humans Medicine Testosterone In patient Follicle Stimulating Hormone Child business |
| Zdroj: | Acta Endocrinologica. 84:191-199 |
| ISSN: | 1479-683X 0804-4643 |
| DOI: | 10.1530/acta.0.0840191 |
| Popis: | Pituitary and gonadal functions were evaluated in two pre-pubertal male siblings and in one unrelated adult male with the complete form of the Laurence-Moon-Biedl syndrome. The adult patient (19 years old) presented lack of secondary sex characteristics, azoospermia, and sub-normal external genitalia development. Testicular biopsy showed an arrest of spermatogenesis and diminished number of Leydig cells. Low plasma testosterone levels and normal responsiveness to HCG administration were found. A significant rise of pituitary gonadotrophin after LH-RH stimulation and a lack of response to clomiphene citrate was demonstrated. The pre-pubertal siblings (9 and 11 years old) had genital hypoplasia and undetectable plasma levels of testosterone, though there was a significant rise after HCG stimulation. Plasma gonadotrophin levels were within the assay sensitivity limits and a normal pituitary responsiveness following LH-RH stimulus was noted. Slightly low excretion of urinary 17-OH-corticosteroids which increased significantly after ACTH and metyrapone was demonstrated in both patients. Elevated levels of serum lipoproteins and triglycerides were found in all cases. These results are interpreted as demonstrating the suprahypophyseal origin of the dysfunction thus producing hypogonadism observed in the adult patient, and suggesting that a similar dysfunction might account for the genital hypoplasia in the pre-pubertal boys with this inherited disorder. |
| Databáze: | OpenAIRE |
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