1/17. MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, microcephaly, obesity): a new X-linked mitochondrial disorder.MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, microcephaly and obesity) is an X-linked disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the mitochondrial electron transport chain. Histological staining showed mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a mitochondrial disorder and one of the very few X-linked mitochondrial syndromes.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
2/17. Cerebellar vermis hypoplasia in a patient with bardet-biedl syndrome.Laurence-Moon-Bardet-Biedl syndome is an autosomal recessive condition characterized by retinal dystrophy, obesity, mental retardation, distal limb anomaly, hypogonadism, and renal dysfunction. The symptoms vary among families and even among affected siblings. Certain clinical signs have been used to identify subgroups of patients with this complex condition. laurence-moon syndrome as a distinct entity is rare and features paraplegia in the absence of polydactyly or obesity. bardet-biedl syndrome is characterized by distal limb anomaly, obesity, and renal involvement, but neurologic symptoms are very unusual. We report a patient exhibiting characteristic features of bardet-biedl syndrome in addition to cerebellar vermis hypoplasia and mega cisterna magna.- - - - - - - - - - ranking = 3keywords = obesity (Clic here for more details about this article) |
3/17. A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance.Three siblings with retinitis pigmentosa, deafness and mental retardation were studied. Physical abnormalities included nystagmus, acanthosis nigricans and multiple keloids. The two male siblings had gynecomastia, small testes and mild subvirilization whereas the only indication of hypogonadism in the female sibling was oligomenorrhea. testosterone levels in the males, which were in the low to low normal range, were increased by the administration of large doses of chorionic gonadotropin. The two affected males had elevated plasma luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels which were decreased by the administration of testosterone and increased by the administration of clomiphene. One sibling had mild obesity and diabetes mellitus, one had moderate obesity, normal glucose tolerance and hyperinsulinism and the third had abnormal glucose tolerance and hyperinsulinism. This familial syndrome is distinct from either the Laurence-Moon, Bardet-Biedl or Alstrom disorders and provides further evidence of genetic heterogeneity in this group of autosomal recessive traits.- - - - - - - - - - ranking = 2keywords = obesity (Clic here for more details about this article) |
4/17. Familial variable expression of dilated cardiomyopathy in alstrom syndrome: a report of four sibs.alstrom syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus, photophobia, and pigmentary retinopathy), progressive sensorineural hearing loss, morbid obesity, male hypogonadism, insulin resistant diabetes, renal failure, and dilated cardiomyopathy. We report on four sibs with alstrom syndrome with intra-familial variability in onset, severity, and spectrum of manifestations; the most serious manifestation being dilated cardiomyopathy. This report emphasizes the difficulty of recognizing this constellation of symptoms as alstrom syndrome at an early age, the seriousness of cardiac involvement, and the intra-familial variability of phenotypic expression.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
5/17. Rare case of alstrom syndrome without obesity and with short stature, diagnosed in adulthood.alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, obesity, type 2 diabetes mellitus and chronic nephropathy. It may be associated with acanthosis nigricans, hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis, hyperlipidaemia, dilated cardiomyopathy and short stature. We report a patient with alstrom syndrome who had hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis and short stature with normal body weight, all of which are seen infrequently with this syndrome.- - - - - - - - - - ranking = 5keywords = obesity (Clic here for more details about this article) |
6/17. testosterone undecanoate restores erectile function in a subset of patients with venous leakage: a series of case reports.INTRODUCTION: androgens are critical for maintaining penile structure and function and androgen deficiency alters the function of the corporal veno-occlusive mechanism in animal models. However, there are limited research and data supporting this association in humans. methods: case reports of hypogonadal men (N = 12) with low plasma testosterone and moderate to severe erectile dysfunction are presented. Comorbidities varied, including diabetes mellitus type I or II, metabolic syndrome with possible related hypertension, dyslipidemia, or obesity. Oral phosphodiesterase type 5 (PDE5) inhibitor therapy did not improve erectile function. Each patient underwent baseline dynamic infusion pharmacocavernosometry and cavernosography revealing various degrees of corporal veno-occlusive dysfunction. The patients underwent treatment with 1,000 mg injectable testosterone undecanoate (Nebido) on day 1, followed by another injection after 6 weeks and every 3 months thereafter. Dynamic infusion pharmacocavernosography was repeated in all 12 patients after 3 months of treatment. RESULTS: Five of the 12 patients reported significant improvement in erectile function within 12-20 weeks of androgen treatment and are currently under follow-up. Compared with baseline pharmacocavernosography, repeat radiological studies in patients who reported improvement in erectile function did not show veins draining the corporal bodies. The patients who responded to androgens also noted improvement in sexual desire domain (International Index of Erectile Function [IIEF] scores increased from 4 /- 0.7 to 8 /- 0.3) and erectile function domain (IIEF scores increased from 6 /- 2 to 24 /- 1). CONCLUSION: The observations made in these limited series of case reports suggest that testosterone improved erectile function in hypogonadal patients by restoring veno-occlusive function. Prospective, multi-institutional, double-blind placebo-controlled trials in hypogonadal patients are indicated.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
7/17. Successful GnRH treatment in a patient with Kallmann's syndrome, who previously failed HMG/HCG treatment.A successful GnRH treatment for hypogonadotropic hypogonadism is described. A 40 year old infertile patient due to Kallmann's syndrome, associated with obesity and NIDDM, was treated with HCG (5,000 IU/week) for 8 years. In an attempt to induce spermatogenesis HMG (75 IU/daily) was added for 2 years. During the combined gonadotropin treatment semen analysis indicated an improvement from azoospermia to 2 x 10(6) sperm/ml. Since semen quality remained poor and obviously no pregnancy was achieved, the last regime was replaced by a pulsatile GnRH treatment (5 mcg/90 minutes). Following 6 months sperm count increased up to 15 x 10(6) associated with normal motility and morphology. Patient's wife conceived after the second intrauterine insemination and delivered a full term healthy baby.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
8/17. Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome.We describe a 3-year-old boy and his 2 maternal uncles with moderate to severe mental retardation, short stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond-shaped palperbral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia. Two other males in this family who had similar facial anomalies and developmental delay died in early infancy and midchildhood. This apparently new disorder is reminiscent of, but distinct from, the prader-willi syndrome, and is likely inherited as an X-linked recessive trait. Preliminary studies with dna probes are consistent with an X-linked locus and permit exclusion of distal Xp and Xq regions as the site of this mutation.- - - - - - - - - - ranking = 5keywords = obesity (Clic here for more details about this article) |
9/17. Severe sexual impairment produced by morbid obesity. Report of a case.A 45-year-old man, was admitted for investigation of severe sexual impairment. During 20 years of marriage, he had had no normal sexual intercourse and the couple was childless. physical examination disclosed a severely obese man (weight 300 kg, height 1.75 m), with a relatively small and invaginated penis and small (5 ml) soft testes. Laboratory examinations disclosed the following: low serum testosterone (1 ng/ml), with a reduced response to HCG (3.8 ng/ml). sex hormone binding globulin was at the lower limit of normal (0.38 microgram/dl), serum free testosterone was low (0.98% of total testosterone) as well as non-SHBG bound testosterone (22% of total testosterone). Daily total urinary estrogen excretion was increased (107 micrograms), the plasma estrone (78 pg/ml) and estradiol (74 pg/ml) were elevated. The gonadotropins were normal and responded adequately to LRH. plasma growth hormone was decreased, prolactin, T4 and adrenal steroids were normal and responded normally to stimuli and inhibitors. Chromosomal constitution was 46XY. Thus, in this man the marked obesity produced a significant increase in estrogens which subsequently induced a severe decrease in testosterone and its free counterpart in excessive impairment of sexual function.- - - - - - - - - - ranking = 5keywords = obesity (Clic here for more details about this article) |
10/17. The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene.A family is described in which four male patients spanning three generations present a consistent clinical entity, the major features of which include: ulnar finger and fibular toe ray defects; delayed growth and onset of puberty, obesity, hypogenitalism and diminished sexual activity; hypoplasia of nipples and apocrine glands with subsequently diminished ability to perspire. Additional findings in single cases include pyloric, anal and subglottic stenosis. To date, another 12 patients in three families have been described with this syndrome. The condition appears to be inherited as an autosomal dominant trait with full penetrance and highly variable expression.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
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