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  • Title: Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin.
    Author: Triantafillidis JK, Kottaras G, Peros G, Merikas E, Gikas A, Condilis N, Konstantellou E.
    Journal: Ann Ital Chir; 2004; 75(6):683-90. PubMed ID: 15960365.
    Abstract:
    AIM: To investigate the pituary, genitalia, adrenal, thyroid, parathyroid and pancreatic endocrine function of a female patient aged 37 with abetalipoproteinemia at the time of diagnosis and 5 years thereafter (after application of a modified diet). SUBJECT-METHODS: Serum concentrations of cortisol, A4, ACTH, aldosteron, renin, dehydroepiandrosterone sulfate (DHEA-5), progesterone, 17-OH progesterone, testosterone, SH13G, estradiol, luteinizing hormone, follicle stimulating hormone, T3, T4, TSH, FT3, FT4, parathormone, osteocalcin, prolactin, proinsuline, insulin, glucagon, somatomedin-C (Insulin-like Growth Factor-1, IGF-1), IG171-13P3, 25 (OH) Vitamin D3 and 1-25 (OH) 2 Vitamin D3, were measured by radioimmunoassay. Synactlien test, and 24-hour urine cortisol, were also estimated. Serum leptin estimation was carried-out using a sensitive enzymatic technique. Ionized part of serum calcium was measured by the use of a special machine (CORNING), while bone alkaline phosphatase was measured by radioimmunoassay. RESULTS: Serum progesterone and 17-OH-progesterone were reduced in both examinations. Estimation of serum progesterone performed on the 21th day of the menstrual cycle revealed again values below the lowest normal limit. Serum prolactin was increased both in rest and during movement. The levels of both, somatomedin-C (IGF-1) and leptin were below the lowest normal limit. Despite normal serum parathormone, serum-ionized calcium and 25-OH vitamin D were low, while serum bone alkaline phosphatase was increased. Serum proinsulin was increased, and serum insulin was low. Serum thyroid hormone, glucagon, parathormone, FSH, LH, ACTH, testosterone, estradiol and SH13G were normal. The hormonal profile of the patient estimated 5 years later did not differ substantially suggesting that the metabolic improvement due to the adoption of the modified diet had not any significant impact on it. CONCLUSION: Female patients with abetalipoproteinernia have reduced production of progesterone by the corpus luteum and slightly abnormal bone metabolism. The reduced production of progesterone is probably due to the low levels of serum LDL and cholesterol, while reduced serum levels of Leptin and IG17-1 are probably due to the impairment nutritional status. The adoption of a modified diet does not alter the hormonal profile significantly.
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