1/110. Coexistence of primary endocrine deficiencies: a unique case of male hypergonadism associated with hypoparathyroidism, hypoadrenocorticism, and hypothyroidism.The unique combination of male hypogonadism with hypoparathyroidism, hypoadrenalism, hypothyroidism, diabetes mellitus, and alopecia totalis has been documented in a male patient who has been followed over the past 28 years. In this patient, first seen at the age of six for hypoparathyroidism alone, repeated clinical and laboratory endocrine evaluation detected the sequential development of the additional endocrine deficiencies. The presence of abnormal serum antibodies is consistent with an atuoimmune pathogenesis of this syndrome.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
2/110. Pituitary deficiency and lack of gonads in an XY pseudohermaphrodite with beta 39/lepore haemoglobinopathy.We describe the occurrence of hypothyroidism and hypogonadotropic hypogonadism in an XY pseudohermaphrodite subject affected by beta-thalassemia. The patient, reared as female, diagnosed at 14 months of age as having a beta 39/Lepore hemoglobinopathy, treated with multiple transfusion therapy, was referred at age of 15 years because of delayed puberty. Complete endocrine evaluation showed low levels, both basal and after combined LHRH-TRH and hCG stimuli, of FSH, LH, TSH, estradiol (E2), testosterone (T), progesterone (P), androstenedione (A), and FT4 levels, and normal PRL, cortisol, 17OHP and ACTH levels. Imaging studies (ultrasound, magnetic resonance, radioisotope scanning and gonadal vessels phlebography) did not show internal genitalia and gonads. karyotype resulted 46,XY. PCR amplification of the SRY gene confirmed the presence of the y chromosome. female genitalia without uterus in a subject with y chromosome SRY gene, and no detectable testes indicate a condition of male pseudohermaphroditism associated with testicular regression. Low gonadotropin and sex steroid levels are suggestive of combined acquired hypothalamic-pituitary and gonadal impairment, due to iron deposition in both organs. We cannot exclude congenital failure of testosterone synthesis and action in this case, because lack of gonads is an unusual finding in thalassemic hypogonadic subjects.- - - - - - - - - - ranking = 0.16666666666667keywords = endocrine (Clic here for more details about this article) |
3/110. Severe congenital hypothyroidism due to a homozygous mutation of the betaTSH gene.Isolated TSH deficiency leading to hypothyroidism seems to be a rare condition, escaping the diagnosis by neonatal screening programs, which are based on the primary determination of TSH. This is the first report of a case with an autosomal recessive TSH defect caused by a homozygous mutation of the betaTSH gene that was diagnosed in the early neonatal period. Hypothyroidism in the first child of apparently unrelated parents was suspected because of the classical symptoms of congenital hypothyroidism, which were fully expressed already on the 11th day of life. Routine neonatal TSH-screening on the 4th day of life had been normal, but subsequent determination of serum thyroid hormone levels revealed almost undetectable levels and thyroid hormone substitution was immediately started. Because there was no indication for other pituitary hormone deficiencies, sequence analysis of the betaTSH gene was initiated. A homozygous T deletion in codon 105 was found resulting in a change of a highly conserved cysteine to valine followed by eight altered amino acids and a premature stop codon due to the frame-shift. This altered betaTSH is a biologically inactive peptide. Because of the early development of severe symptoms, it is possible that this altered TSH suppresses the physiologic constitutive activity of the unliganded TSH receptor. Rapid molecular diagnosis in this patient clarified the diagnosis without additional endocrine and imaging studies and it is concluded, that symptoms of hypothyroidism in the neonatal period should result always in an immediate comprehensive work-up of thyroid function including molecular genetic studies irrespective of the screening result.- - - - - - - - - - ranking = 0.16666666666667keywords = endocrine (Clic here for more details about this article) |
4/110. Panhypopituitarism associated with diabetes insipidus in a girl with a suprasellar arachnoid cyst.We report on a female patient with a large suprasellar arachnoid cyst (3.5 x 2.5 cm) combined with right optic nerve hypoplasia. She developed growth hormone deficiency and hypothyroidism at the age of 8.5 years, adrenal insufficiency at the age of 11 years, diabetes insipidus and hypogonadotropic hypogonadism at the age of 15 years. When last seen at the age of 19 years she was extremely obese ( 5.9 BMI SDS). The endocrine picture suggests that arachnoid cysts might be involved in far more complex hypothalamic-pituitary disturbances than previously thought.- - - - - - - - - - ranking = 0.16666666666667keywords = endocrine (Clic here for more details about this article) |
5/110. Diagnosing and treating hypothyroidism.Hypothyroidism is a common endocrine disorder affecting 1.4% to 2.0% of women and 0.1% to 0.2% of men. The prevalence of both overt and subclinical hypothyroidism increases with age, affecting 5% to 10% of women over age 50 and 1.25% of men over age 60, with an increasing incidence in women ages 40 to 50. Typical symptoms are consistent with declining metabolic functions and range from vague complaints of fatigue in subclinical deficiency to overt clinical symptoms involving changes in mentation and memory, lethargy, weight gain, cold intolerance, constipation, and goitrous enlargement of the thyroid gland. Atypical presentations such as weight loss, hearing impairment, tinnitus, and carpal tunnel syndrome may occur, especially in the elderly. This case report reviews the presenting symptomatology of an otherwise healthy 43-year-old woman who exhibited typical and atypical symptoms of underlying thyroid deficiency.- - - - - - - - - - ranking = 0.16666666666667keywords = endocrine (Clic here for more details about this article) |
6/110. Unusual combination of immune and endocrine deficiencies. A possible case of early-onset Louis-Bar syndrome.Immunodeficiency functionally limited to the B-cell system together with mild hypothyroidism and severe growth hormone deficiency was found in a 6 1/2-month-old female infant with recurrent infections and growth retardation. A lymph node biopsy and post mortem examination of the lymphoid organs surprisingly revealed severe deficiency of both thymus-dependent and bursa-equivalent systems. The unusual combination of immune and endocrine deficiencies posed a difficult diagnostic problem. The hypothesis of an early-onset Louis-Bar syndrome was suggested and apparently corroborated by the autopsy findings of ovarian dysgenesis and cerebellar degeneration. The dissociation between functional and morphological findings as regards the immunodeficiency, and the possible links between immune and endocrine derangements are discussed.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
7/110. Thalamic and hypothalamic tumors of childhood: endocrine late effects.Children who have received chemotherapy and radiation therapy for treatment of thalamic/hypothalamic tumors are at risk for late effects, specifically endocrine dysfunction. Evaluation of growth and pubertal development, thyroid function and integrity of the hypothalamic-pituitary-adrenal axis should be undertaken in a prospective manner. Issues of metabolic disturbances such as obesity, altered body composition/bone density as well as ultimate fertility also need to be addressed by ongoing prospective evaluations.- - - - - - - - - - ranking = 0.83373555497207keywords = endocrine, bone (Clic here for more details about this article) |
8/110. Transfer of autoimmune hypothyroidism following bone marrow transplantation from a donor with Graves' disease.We describe the transfer of a different autoimmune thyroid disorder by bone marrow transplantation. The donor had euthyroid Graves' disease after treatment with antithyroid drugs and stable oxopthalmos, with persistent thyroid autoantibodies. One year after bone marrow transplant, the recipient developed atrophic autoimmune hypothyroidism. Six months later the donor developed transient subclinical hypothyroidism followed by clinical hyperthyroidism. In both recipient and donor the presence of thyrotropin (TSH)-binding inhibitory immunoglobulins was documented. Although TSH receptor antibodies usually act as a TSH agonist causing thyrotoxicosis, they can also can act as a TSH antagonist causing primary hypothyroidism. This case may be an example of how the same antibody can act as an agonist in the donor and an antagonist in the bone marrow recipient, causing two different autoimmune disorders: primary hypothyroidism in the recipient and Graves' disease in the donor.- - - - - - - - - - ranking = 0.0028155514711693keywords = bone (Clic here for more details about this article) |
9/110. hypopituitarism following closed head injury.We describe four young patients (age 19-34 years) with hypopituitarism following closed head injury. The diagnosis was made by demonstration of low basal pituitary hormone levels and dynamic tests showing low pituitary reserve. The time interval between the injury and diagnosis of hypopituitarism was between three weeks and two months demonstrating the difficulty and complexity of making this diagnosis. Three of our patients (all patients suffering from anterior pituitary hormone deficiency) had ACTH deficiency, a condition which may be life threatening if left undiagnosed; these patients also demonstrated central hypothyroidism. Hypogonadotrophic hypogonadism occurred in three of the patients and was treated with hormonal replacement. diabetes insipidus was the only insult in one of our patients, accompanied other hormonal deficits in two, and did not appear at all in another patient. Information about skull damage was available for three of the patients, and included skull base and facial bone fractures, probably reflecting the extent of injury necessary to cause hypopituitarism. All patients regained normal lives with adequate hormonal replacement therapy.- - - - - - - - - - ranking = 0.00040222163873848keywords = bone (Clic here for more details about this article) |
10/110. Severe hypothyroidism due to autoimmune atrophic thyroiditis--predicted target height and a plausible mechanism for sexual precocity.Autoimmune thyroiditis, the most frequent cause of acquired hypothyroidism in childhood and adolescents, is characterized by raised levels of the specific antibodies to thyroperoxidase (TPOAb) and thyroglobulin (TgAb). We report a girl aged 10 years and 9 months who presented with arrested growth and breast development (thelarche). She also exhibited myxedema of the face and legs, prominent striae on the thighs, dry, cold skin, and hypertrichosis on her back. There was no goiter, no history of thyroid pain and no family history of thyroid disease. She complained occasionally of a transient headache. The patient's height was below the 3rd percentile, while her body weight was at the 50th percentile and bone age was normal. Laboratory tests proved severe hypothyroidism (fT4 0 ng/dl, fT3 0.99 pg/ml, TSH >100 microIU/ml plus an increased titer of TPOAb). Thyroid ultrasound supported the diagnosis of thyroiditis. Pituitary PRL and FSH levels and peripheral estradiol were all elevated. L-thyroxine therapy, instituted following diagnosis, improved the growth velocity to 11 cm/year and the FSH and E2 levels were normalized to prepubertal values. Complete regression of the breast development was observed within 4 months. However, 4 months later a true (central), isosexual LHRH-dependent puberty started. The pubertal features at the time of the original diagnosis might be explained by: 1. the direct action of elevated TRH on gonadotropes to stimulate gonadotropin secretion and on lactotrophes to stimulate PRL secretion, and 2. TSH action on LH and mostly FSH receptors (homologous to TSH receptors) in the ovary, stimulating the secretion of estradiol.- - - - - - - - - - ranking = 0.00040222163873848keywords = bone (Clic here for more details about this article) |
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