Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Five patients were found to have hyperthecosis ovarii as evidenced by the presence of large lipid containing thecal cells in the ovarian stroma. The clinical picture was similar in all of them, featuring mild virilization, obesity and oligomenorrhea, with refractoriness to clomid therapy. Plasma FSH levels were low normal, while LH levels were slightly elevated. Urinary 17-ketosteroids levels were elevated, and plasma testosterone concentrations were upper normal. The response to dexamethasone suppression and HCG stimulation is discussed. The effect of wedge resection on the clinical and endocrinologic pictures is evaluated.
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PMID:Hyperthecosis syndrome. Clinical, endocrinologic and histologic findings. 41 61

The diagnostic value of ultrasound examinations is compared to the diagnostic value of determinations of the chorionic gonadotropin (HCG) excretion in normal and abnormal early pregnancy. 330 pregnancies between 5 and 16 weeks gestation were examined. there were 78 cases of normal early pregnancy, 131 cases of threatened abortion, 29 cases of missed abortion and 92 cases of incomplete abortion. the diagnostic accuracy of ultrasound examination was 95,5% in 582 determinations, the HCG excretions showed a diagnostic accuracy of 87,1%. The combined accuracy of both methods reduced the diagnostic error to 0,58%. The results in the different groups of patients were compared. Errors in ultrasound diagnosis decrease with increasing gestational age. Diagnostic errors were especially observed in cases of uterine retroversion, obesity or unknown menstrual history. The diagnostic accuracy of the HCG excretion is improved by serial determinations.
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PMID:[The comparative value of ultrasound examinations and quantitative determinations of chorionic gonadotropin in the differential diagnosis of the disturbed early pregnancy (author's transl)]. 117 96

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.
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PMID:Successful GnRH treatment in a patient with Kallmann's syndrome, who previously failed HMG/HCG treatment. 314 74

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.
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PMID:Severe sexual impairment produced by morbid obesity. Report of a case. 339 34

In two girls (14 and 16 years) and one boy (19 years) with PLW-syndrome and pronounced obesity (240, 210 and 77% overweight) endocrine function tests were carried out. Growth hormone secretion was decreased but normalized after reduction of weight. Thyroxin levels as well as basal and TRH stimulated TSH concentrations were normal. HCG application in the boy induced no rise of the normal basal testosterone levels. Oral glucose tolerance test demonstrated an increased stimulation of insulin in two cases, no other symptoms of diabetes mellitus were found. In the LHRH test an insufficient rise of gonadotropins was found. However, after two weeks of pernasal application of an LHRH analogue (D-Leu6-des-Gly10-EA) the gonadotropin stimulation was distinctly improved and onset of puberty was induced in the male patient. These results are indicative of a hypothalamic disturbance in patients with PLW-syndrome.
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PMID:[Endocrine studies on the Prader-Labhart-Willi syndrome: puberty induction in a 19-year-old boy after long-term treatment with an LHRH analog]. 641 33

The male adolescent may present several endocrinological problems, the most frequent of which is the retardation or absence of puberty due to constitutional delay of growth and development. This form does not require therapy and must be distinguished from other forms of hypogonadism (primitive or secondary) by endocrine tests (LHRH test, nightly pulses LH secretion, plasmatic basal level of testosterone and after HCG, cerebral NMR). Hypogonadism treatment consists of replacement therapy with testosterone or testes stimulation with HCG or LHRH. Another frequent disease is gynecomastia, usually due to physiological enlargement of mammary gland during pubertal development, sometimes it may be secondary to hypogonadism, tumors, liver function abnormalities. Severe or psychologically disturbing gynecomastia can be corrected by reductive mammoplasty. Very often, adolescents may present diseases related to incorrect food habits. Obesity is common and anorexia is becoming an important problem also in males.
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PMID:[Endocrinological problems in male adolescents]. 770 35

Prader-Willi syndrome is rather a rare disease. However, as it includes 4 features (hypogonadism, hypomentia, hypotonia, and obesity), urologist may see the patients with this syndrome for their gonadal problem. We studied all the 27 cases in our hospital of which data were precisely collected. Among males, 67% of patients had presented themselves first to the department of pediatric internal medicine. One third of the patients were not diagnosed as the syndrome and referred to our clinic because of urological abnormalities. Chromosomal abnormality was seen in 40.9%. We found cryptorchism in all the cases and micropenis in 56%. In females, delayed menarche over 15-year-old was seen in 75%. From endocrinological studies, 75% male showed low reaction against HCG stimulation. Low gonadotropin responses to LH-RH were seen in 80% of all patients. We performed orohiopexy for cryptorchism, but testicular development was poor. And we do not actively utilize hormonal therapies for these patients.
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PMID:[Urological problems in Prader-Willi syndrome]. 793 54

The male adolescent may present several endocrinological problems, the most frequent of which is the retardation or absence of puberty due to constitutional delay of growth and development. This form does not require therapy and must be distinguished from other forms of hypogonadism (primitive or secondary) by endocrine tests (LHRH test, nightly pulses LH secretion, plasmatic basal level of testosterone and after HCG, cerebral NMR). Hypogonadism treatment consists of replacement therapy with testosterone or testes stimulation with HCG or LHRH. Another frequent disease is gynecomastia, usually due to physiological enlargement of mammary gland during pubertal development, sometimes it may be secondary to hypogonadism, tumors, liver function abnormalities. Severe or psychologically disturbing gynecomastia can be corrected by reductive mammoplasty. Very often, adolescents may present diseases related to incorrect food habits. Obesity is common and anorexia is becoming an important problem also in males.
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PMID:[Endocrinologic problems of the male adolescent]. 904 25

We report on a 42-year old male with short stature, azoospermia and a wide deletion of long arm of Y chromosome. On physical examination, the patient showed height of 149 cm (< 1 degree centile) and reduced volume (3 ml) and consistency of the testes. On hormonal evaluation, he showed increased serum gonadotropins and normal serum testosterone levels though its HCG stimulated levels were limited. Serum thyroid hormones were normal. Serum GH levels in baseline evaluation as well as after GHRH and GHRH + pyridostigmine administration were normal. Serum IGF I levels were lower than normal in baseline evaluation whereas its response to the GH administration was in the normal range. The bilateral testicular biopsy showed tubular atrophy, hyalinosis, interstitial sclerosis and a histological picture of a Sertoli cell only syndrome. Moreover the patient showed arthropathy, otopathy, small chin, small mouth and truncal obesity. On genetic evaluation, the patient showed a 46,X,delY (pter--q11.1:) karyotype and loss of several DNA loci on Yq. In fact he preserved short arm SRY, centromeric DYZ3 and more proximal euchromatic region Yq loci, including DYS270, DYS271, DYS272, DYS11, DYS273, DYS274, DYS148, DYS275, and missed more distal DNA loci from DYS246 to DYZ2. These results disclosed a wide Y long arm deletion, including all hypothized Yq azoospermia loci (except for AZFa and probably for one of the RBM genes, which lie proximally to the deletion) and possibly the Y-specific growth control region (GCY), mapped between DYS11 and DYS246 loci. This deletion is responsible for the complete azoospermia of the patient and probably also for his short stature, even if other factors could be implicated in the statural impairment. It further possibly allowed to relate the GCY gene(s) to the control of GH or IGF-I receptor or post-receptor pathway, being the alteration of this gene(s) consistent with the hormonal pattern of the patient.
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PMID:Short stature and azoospermia in a patient with Y chromosome long arm deletion. 943 22

Screening of a large series of patients with unexplained mental retardation with a 1 Mb BAC array resulted in the detection of several cryptic chromosomal imbalances. In this paper we present the findings of array CGH screening in a 14-year-old boy with the brachytelephalangic type of chondrodysplasia punctata, mental retardation and obesity. On several occasions, cytogenetic analysis of this boy revealed a normal karyotype. Subsequent screening with array CGH resulted in the detection of a distal 9p trisomy and distal Xp nullisomy caused by an unbalanced X;9 translocation: 46,Y,der(X)t(X;9)(p22.32;p23). The identification of this de novo chromosomal rearrangement not only made accurate genetic counselling possible but also explained most of the phenotypic abnormalities observed in this patient. This study confirms the power of array CGH in the detection of subtle or submicroscopic chromosomal changes.
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PMID:Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type. 1617 25


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