| 4A syndrome is characterised by adrenocortical insufficiency, achalasia, alacrima, autonomic and other neurological abnormalities. We report an 18-year-old boy with 4 A syndrome and having all classical features of the disease including sensorimotor neuropathy. In addition, the patient had low aldosterone levels and signs of osteoporosis, which apparently developed without glucocorticoid replacement therapy. Although it is speculated that the lack of local growth factors, nutritional deficiency secondary to achalasia or receptor abnormalities regarding bone metabolism contribute to osteoporosis, its etiopathogenesis still needs to be clarified. ( info) |
12/410. Adrenal suppression secondary to inhaled fluticasone propionate. BACKGROUND: Inhaled glucocorticoids are the medical treatment of choice in many of patients with asthma. Fluticasone propionate is an inhaled glucocorticoid with little systemic bioavailability via the oral route and infrequent association with systemic adverse effects at the recommended dosage. OBJECTIVE: To report a case of adrenal suppression and exogenous glucocorticoid excess from inhaled fluticasone propionate. methods: A 9-year-old girl with a previous history of episodic asthma was placed on 550 microg of fluticasone propionate daily for severe labile asthma diagnosed by history and methacholine challenge. The patient returned 6 months later with complaints of increased appetite, nausea, and feeling "hot and flushed." On physical exam she had stigmata of Cushing's syndrome. The patient subsequently developed orthostatic hypotension and moderate dehydration following a viral illness. After a long taper of fluticasone propionate the patient' s adrenal function returned to normal and she had no acute or chronic exacerbations of her asthma. RESULTS: Her 8 AM cortisol was undetectable with an ACTH of 21 pg/mL. The serum prolactin, TSH, free thyroxine, insulin-like growth factor i, and renin activity were all normal. An MRI study of her head was also normal. Repeat methacholine challenges while receiving a much smaller dose fluticasone propionate showed a significant decrease in airway reactivity. CONCLUSION: Adrenal suppression can occur from inhaled fluticasone propionate at a dosage less than has been previously reported. ( info) |
| A case of combined, selective, hypothalamic hypothyroidism and secondary adrenal insufficiency is described. serum levels of thyroid-stimulating hormone (TSH), before and after thyrotropin-releasing factor (TRF) administration, were in the range generally considered to be indicative of primary, rather than secondary, hypothyroidism. Hence, the clinical usefulness of serum TSH levels to unequivocally provide an accurate distinction between primary and secondary hypothyroidism must be questioned. The paucity of clinical findings suggestive of adrenal insufficiency in this case is emphasized, and the usefulness of adrenal screening tests in hypothyroid subjects seems clear. ( info) |
| This case conference describes two patients with hypotension who eventually were diagnosed with adrenal insufficiency. The first patient was initially believed to have a cardiac abnormality and the second patient sepsis, which was causing the continued hypotension. Both patients exhibited several clinical similarities; however, neither had the classic symptoms of adrenal insufficiency. This report discusses the causes of postoperative hypotension, diagnostic testing, and treatment for patients with adrenal insufficiency, and briefly reviews the literature. ( info) |
15/410. Adrenocortical insufficiency associated with long-term high-dose fosfestrol therapy for prostatic carcinoma. A 59-year-old man was admitted to our hospital because of muscular pain, weakness, and anorexia. He had been treated with 600 mg/day of fosfestrol, a synthetic estrogen, for 10 years for prostatic carcinoma. Endocrinological studies demonstrated adrenocortical insufficiency due to inadequate ACTH secretion. After initiation of glucocorticoid replacement therapy, his symptoms subsided rapidly. To our knowledge, an association between estrogenic agents, including fosfestrol, and secondary adrenocortical insufficiency has not been previously reported. physicians who treat patients with long-term and high-dose strong estrogenic agents should be cautious about the possible emergence of secondary adrenocortical insufficiency. ( info) |
| BACKGROUND: adrenal insufficiency is a rare condition that can cause common and nonspecific symptoms. One such symptom, reported by all patients with adrenal insufficiency, is fatigue. On the other hand, up to 20% of patients seeking care from primary care physicians will have fatigue as a complaint. Only a small percentage of patients are found to have underlying medical disease. methods: A medline literature search was performed from 1966 to the present using the key words "fatigue," "adrenal insufficiency," and "polyglandular autoimmune endocrinopathy." Major endocrinology textbooks were also referenced. In addition, references were obtained from bibliographies of available articles. RESULTS AND CONCLUSIONS: This article describes a patient with adrenal insufficiency and fatigue as the primary complaint. A brief discussion of fatigue and clues to organic causes follows, along with a more detailed discussion of adrenal insufficiency. Important medical history or signs and symptoms of organic disease suggest the need for screening tests and more detailed evaluation to uncover the uncommon medical causes of fatigue. ( info) |
| Acute adrenal dysfunction during pregnancy is rare. Nevertheless, adrenal insufficiency can present as an adrenal crisis, and may be life threatening. There is a wide range of clinical symptoms and signs, and the differential diagnosis is challenging. A full adrenal and pituitary evaluation, both structural and hormonal, must be performed to reach the correct diagnosis, and appropriate treatment must not be delayed. A case is presented of acute adrenal insufficiency that occurred 24 hours after a cesarean delivery. The initial symptoms included hypoglycemic seizures and coma. The workup, both hormonal and structural, revealed isolated adrenocorticotrophic hormone deficiency. This considers this case and reviews the differential diagnosis, diagnostic workup, and the treatment of adrenal dysfunction in pregnancy and the puerperium, as well as the obstetric outcome in women suffering from this disorder. TARGET AUDIENCE: Obstetricians & Gynecologists, family physicians. learning OBJECTIVES: After completion of this article, the reader will be able to understand the various presentations of hypopituitarism, the various etiologies of this condition, and the appropriate work up and management of a patient with hypopituitarism. ( info) |
| A 73-year-old man with general malaise and nausea following a common cold diagnosed by a local physician was found to have multiple hepatocellular carcinomas with enlarged bilateral adrenal glands, combined with adrenal insufficiency. hydrocortisone replacement improved the symptoms and laboratory findings. autopsy findings revealed that each adrenal gland was completely replaced by the tumor measuring 11 cm in diameter, and no adrenal tissue was recognized. Histologically, the adrenal tumors, as well as the liver tumors, were moderately differentiated Edmondson type II hepatocellular carcinomas. This is a second report of adrenal insufficiency due to hepatocellular carcinoma as a primary site of metastatic adrenal tumor. ( info) |
19/410. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. We report three boys with adrenal hypoplasia congenita (AHC) and additional findings that represent a new syndrome, IMAGe: Intrauterine growth retardation, Metaphyseal dysplasia, AHC, and Genital anomalies. Each presented shortly after birth with growth retardation and severe adrenal insufficiency. Each of the three patients had mild dysmorphic features, bilateral cryptorchidism, a small penis, and hypogonadotropic hypogonadism. Skeletal surveys revealed metaphyseal dysplasia in all three and epiphyseal dysplasia in two. The patients had documented or suspected hypercalciuria and/or hypercalcemia, resulting in nephrocalcinosis in one and in prenatal liver and spleen calcifications in another. AHC presents most often either as an isolated abnormality, caused by mutations in the DAX1 gene, or as part of an Xp21 contiguous gene syndrome, caused by a deletion of the Duchenne muscular dystrophy, glycerol kinase, and DAX1 genes. All three patients with the IMAGe association had normal creatine kinase levels and no evidence of glycerol kinase deficiency. sequence analysis of dna from these patients revealed no mutation in the DAX1- or steroidogenic factor-1-coding sequences, nor was a deletion of DAX1 detected. Identification of the molecular basis of the IMAGe association will give new insight into the pathogenesis of this syndromic relationship involving bone, adrenal cortical, and pituitary development. ( info) |
20/410. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. X-linked adrenal hypoplasia congenita (AHC) is a disorder associated with primary adrenal insufficiency and hypogonadotropic hypogonadism (HH). The gene responsible for X-linked AHC, DAX1, encodes a member of the nuclear hormone receptor superfamily. We studied an extended kindred with AHC and HH in which two males (the proband and his nephew) were affected with a nucleotide deletion (501delA). The proband's mother, sister, and niece were heterozygous for this frameshift mutation. At age 27 yr, after 7 yr of low dose hCG therapy, the proband underwent a testicular biopsy revealing rare spermatogonia and Leydig cell hyperplasia. Despite steadily progressive doses of hCG and Pergonal administered over a 3-yr period, the proband remained azoospermic. The proband's mother, sister (obligate carrier), and niece all had a history of delayed puberty, with menarche occurring at ages 17-18 yr. Baseline patterns of pulsatile gonadotropin secretion and gonadotropin responsiveness to exogenous pulsatile GnRH were examined in the affected males. LH, FSH, and free alpha-subunit were determined during 12.5-24 h of frequent blood sampling (every 10 min). Both patients then received pulsatile GnRH (25 ng/kg) sc every 2 h for 6-7 days. Gonadotropin responses to a single GnRH pulse iv were monitored daily to assess the pituitary responsiveness to exogenous GnRH. In the proband, FSH and LH levels demonstrated a subtle, but significant, response to GnRH over the week of pulsatile GnRH therapy. Free alpha-subunit levels demonstrated an erratic pattern of secretion at baseline and no significant response to pulsatile GnRH. We conclude that 1) affected males with AHC/HH may have an intrinsic defect in spermatogenesis that is not responsive to gonadotropin therapy; 2) female carriers of DAX1 mutations may express the phenotype of delayed puberty; and 3) although affected individuals display minimal responses to pulsatile GnRH, as observed in other AHC kindreds, subtle differences in gonadotropin patterns may nevertheless exist between affected individuals within a kindred. ( info) |