Cases reported "Hypogonadism"

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1/51. A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.

    Rud syndrome formerly was considered as a genetically heterogeneous but distinct clinical entity with the manifestations of ichtyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa. The existence of such a syndrome has recently been dismissed based on a new understanding of the ichthyoses. We report on the clinical history of a 14-year-old boy with congenital ichthyosis, small stature, hypogonadism, facial dysmorphism, nystagmus, kypho-scoliosis and myogenic dystrophy. He was diagnosed as Rud syndrome but developed neither seizures nor mental retardation. However a cousin was mentally retarded. The ichthyosis was familial as five relatives had ichthyosis but no other features of Rud syndrome. The patient had a deletion of the steroid-sulfatase gene. He had neither chondrodysplasia punctata, nor kallmann syndrome, two conditions which are part of the contiguous gene syndrome of the Xp22.3 region. Most case reports previously reported as Rud syndrome can now be reassigned under a contemporary ichthyosis classification that does not include Rud syndrome as a distinct entity. This case was clearly distinct from refsum disease, sjogren-larsson syndrome and any of the other ichthyosis disorders that have been suggested as a replacement for Rud syndrome. Thus the case reported here appears distinct from any previously described, currently recognized syndrome.
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ranking = 1
keywords = replacement
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2/51. A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.

    BACKGROUND: X-linked adrenal hypoplasia congenita (AHC) is a developmental disorder characterized by primary adrenal gland failure, which produces extreme and potentially fatal endocrine deficiencies. Hypogonadotrophic hypogonadism (HHG) also may be associated with AHC. AHC has been shown to result from a variety of mutations in the DAX-1 gene, which encodes a member of the nuclear hormone receptor superfamily. methods: The proband, one of the world's oldest living patients with AHC and HHG, was diagnosed in 1955. He was on corticosteroid replacement therapy since that time and androgen replacement therapy since puberty. We sequenced his DAX-1 gene. RESULTS: We found a 4 bp ACTC deletion between nucleotides 1464 and 1467 in the second exon of the normal DAX-1 sequence. This mutation caused a shift in the reading frame and predicted a premature stop codon at amino acid position 416. The mutation abolished a recognition site for DdeI, allowing for confirmation by restriction analysis. CONCLUSIONS: The position of the mutation confirms the functional importance of the COOH-terminal 10% of the DAX-1 sequence. The clinical history also reinforces the importance of early diagnosis in AHC, which can be associated with longevity and no obvious morbidity after more than 40 years of hormone replacement therapy.
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ranking = 74.735574191964
keywords = replacement therapy, replacement
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3/51. A syndrome of psychosis following discontinuation of an estrogen-progestogen contraceptive and improvement following replacement: A case report.

    Mild forms of psychosis associated with low estrogen levels during the perimenopause are relatively frequent. There is scarce data on severe forms of psychosis in these conditions. We report the case of a 51-year-old woman with no previous psychiatric history who amputated her hand in a 'psychotiform' state after discontinuation of her contraceptive medication. Having subsequently jumped out of a window, she suffered a fracture of the dens with central spinal cord injury and symptoms of cruciate paralysis. The patient stabilized under a combined therapy with estrogen-progestogen substitution, antipsychotic medication and add-on oxcarbazepine.
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ranking = 4
keywords = replacement
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4/51. Heterogenous glycogen storage disease in one family.

    Three brothers, aged 17, 14 and 4 ye presented. Deficiency of glucose-6-phosphatase was associated with deficiency of acid maltase in one and debranching enzyme in the other. Enzyme analyses could not be performed in the youngest sibling.
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ranking = 0.012053655017245
keywords = enzyme
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5/51. Frontal-executive dysfunction in early onset cerebellar ataxia of Holmes' type.

    We report the case of a 29-year-old male patient with cerebellar ataxia of Holmes' type. The combination of progressive cerebellar ataxia and hypogonadotrophic hypogonadism is a rare distinctive syndrome which was first described by Holmes in 1907. early diagnosis is desirable because replacement of testosterone may allow normal sexual development. MRI showed severe combined superior vermian and cerebellar hemisphere atrophy. Comprehensive neuropsychological testing pointed to a more widespread cerebellar mediated functional CNS involvement in the earlier stages of this ataxic syndrome than previously described in mentally not retarded subjects.
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ranking = 1
keywords = replacement
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6/51. Case of XXXXY syndrome. Development throughout adolescence and endocrine aspects.

    49,XXXXY syndrome is a very rare condition that is associated with a considerable more severe phenotype than classic 47,XXY klinefelter syndrome. We present a patient with 49,XXXXY syndrome, who was first presented to an endocrinological unit at the age of 12.5 years with prepubertal genitalia. He was then lost from follow-up and showed clear clinical and biochemical signs of hypergonadotropic hypogonadism when presenting again at the age of 16 years. The patient was started on testosterone replacement therapy. This case is reported to underline the need for thorough endocrinological follow-up examinations in males with X polysomies.
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ranking = 24.911858063988
keywords = replacement therapy, replacement
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7/51. Estrogen therapy in a male patient with chronic hepatitis c and irradiation-induced testicular dysfunction.

    We report an 18-year-old male patient who developed chronic hepatitis c after blood transfusion and had testicular dysfunction after irradiation for a testicular relapse of childhood acute lymphocytic leukemia after cessation of maintenance therapy, and the initiation of testosterone replacement therapy at puberty. Concomitant administration of estradiol resulted in a reduction in serum alanine aminotransferase and ferritin levels and hepatic iron concentration and staining after 2 years of estrogen therapy, although interferon therapy was withdrawn because of adverse effects. This observation suggests that endogenous estradiol may play a beneficial role in male patients with chronic hepatitis c.
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ranking = 24.911858063988
keywords = replacement therapy, replacement
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8/51. diabetic ketoacidosis and hypogonadotropic hypogonadism in association with transfusional hemochromatosis in a man with beta-thalassemia major.

    We report a 23-year-old man with beta-thalassemia major and transfusional hemochromatosis, which manifested as diabetic ketoacidosis and hypogonadotropic hypogonadism. This unusual presentation of diabetic ketoacidosis in hemochromatosis has rarely been reported. magnetic resonance imaging of the abdomen showed decreased signal intensity in the liver, spleen, and pancreas. In addition, the pituitary gland also showed heterogeneous low signal intensity, compatible with hemochromatosis. He was treated with insulin supplements and pulsatile human chorionic gonadotropin administration. Clinical improvement was noted after hormone replacement. Intensive iron chelation therapy was given to prevent cardiac complications, and to restore his gonadal function. During follow-up, the patient experienced improvement in libido and sexual potency.
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ranking = 1
keywords = replacement
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9/51. Pituitary adenoma associated with gigantism and hyperprolactinemia.

    An 11-year-old girl presented with excessive growth, headache, left visual loss and seizures. Her growth hormone (GH) and prolactin (PRL) levels were high and magnetic resonance imaging findings showed an invasive macroadenoma. Gross total tumor removal was performed and then radiotherapy and medical therapy were given. During the follow-up, she developed ACTH deficiency, secondary hypothyroidism and hypogonadism requiring replacement therapy. It is still unclear whether the biological characteristics of GH- and PRL-secreting tumors are different in children from those in adults. More data are needed before a definitive conclusion can be established.
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ranking = 24.911858063988
keywords = replacement therapy, replacement
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10/51. Gonadotropin-secreting pituitary tumor associated with hypersecretion of testosterone and hypogonadism after hypophysectomy.

    OBJECTIVE: To review gonadotropin-secreting pituitary tumors and report the rare case of one of these tumors that caused high serum testosterone concentrations, followed by hypogonadism after hypophysectomy. methods: A case report is presented of a 61-year-old man who had decreased vision in his left eye, found by computed tomography of the sella to be attributable to a soft tissue pituitary mass with upward extension that caused elevation and deviation of the optic chiasm. Endocrine and pathologic evaluations are presented, and the treatment and follow-up course are discussed. RESULTS: Endocrine evaluation revealed a serum follicle-stimulating hormone (FSH) of 72.48 mIU/mL, luteinizing hormone (LH) of 31.65 mIU/mL, prolactin of 26.42 ng/mL, and total testosterone of 15.24 ng/mL (all values higher than the normal ranges). A soft tissue mass (3.2 by 2.5 by 1.2 cm) with negative immunocytochemical staining for prolactin and growth hormone but positive staining for synaptophysin, FSH, and LH was removed. One month postoperatively, the patient's chief complaints were a decrease in penile size and erectile dysfunction. Endocrine evaluation revealed a decreased LH of <0.3 mIU/mL, total testosterone of <0.2 ng/mL, and FSH of 4.3 mIU/mL. Three months later with testosterone replacement therapy, testosterone levels normalized, LH was <0.3 mIU/mL, and FSH was 3.9 mIU/mL. Thyroid function and adrenal function were normal before and after surgical intervention. CONCLUSION: This rare case indicates that gonadotropin tumors can produce a functional LH that can increase serum testosterone levels.
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ranking = 24.911858063988
keywords = replacement therapy, replacement
(Clic here for more details about this article)
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