1/29. 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 = 1keywords = puberty (Clic here for more details about this article) |
2/29. Macro-orchidism in juvenile hypothyroidism.A boy, aged 16 years, with absence of development of the secondary sex characteristics, inappropriately large testes for his stage of puberty, and short stature is described. The symptoms were secondary to long-standing prepubertal hypothyroidism. Following therapy with thyroxine, there was a rapid advancement in growth velocity, full development of the secondary sex characteristics, and reduction in the size of the testes.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
3/29. congenital hypothyroidism with multiple ovarian cysts.A case of ectopic thyroid with congenital hypothyroidism presenting with bilateral multicystic ovaries without marked precocious puberty is reported. The cystic ovaries disappeared dramatically after thyroid hormone therapy. CONCLUSION: When ovarian cysts are found in prepubescent females, the possibility of associated hypothyroidism should be considered.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
4/29. 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 = 1keywords = puberty (Clic here for more details about this article) |
5/29. Pituitary pseudotumor with unusual presentation reversed shortly after the introduction of thyroxine replacement therapy.Pituitary pseudotumor (pituitary thyrotroph hyperplasia) caused by unrecognized and untreated hypothyroidism has been described as a rare condition, mostly in adults. There are only a few reports on this condition in children. Here we describe an unusual association of pituitary pseudotumor with hypothyroidism, vaginal bleeding, and growth retardation in a girl at an early stage of puberty. Hormonal testing showed low thyroxine and high TSH levels, hyperprolactinemia, low growth hormone levels and prepubertal levels of gonadotrophins. Ovarian cyst was detected by ultrasound. A large intrasellar mass expanding beyond the sella turcica was detected on MRI. Homogeneous contrast enhancement confirmed pituitary hyperplasia. Therapy with L-thyroxine resulted in rapid improvement of the clinical signs, normalization of the hormone levels, and resolution of the pituitary hyperplasia on MRI within 40 days. In children, prolonged unrecognized primary hypothyroidism might be accompanied by growth deficiency and pubertal disharmony. Pituitary hyperplasia should be sought in these cases.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
6/29. metrorrhagia and precocious puberty revealing primary hypothyroidism in a child with Down's syndrome.We report a child with Down's syndrome in whom metrorrhagia and precocious puberty revealed primary autoimmune hypothyroidism. The patient had a decreased growth velocity, exaggerated weight gain, bone age delay, and bilaterally enlarged multicystic ovaries. Delays in the diagnosis and treatment of hypothyroidism can lead to this peculiar presentation.- - - - - - - - - - ranking = 5keywords = puberty (Clic here for more details about this article) |
7/29. Evolving hypopituitarism following cranial irradiation.Increasing survival after treatment for childhood cancer in recent years has left many patients with long-term sequelae. Following cranial irradiation, changes in hypothalamic-pituitary function evolve over several years and multiple hormone deficiencies are frequently found. In the present study we describe a boy whose initial presentation with a cerebral tumour included central precocious puberty. He was followed for more than 15 years and sequentially developed deficiencies of growth hormone, thyroid-stimulating hormone, gonadotrophins and adrenocorticotropic hormone after high-dose cranial irradiation. Long-term endocrine follow up of such children is essential for the early diagnosis and optimal management of hormone deficiencies.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
8/29. Vaginal bleeding in a young girl due to primary hypothyroidism.When vaginal bleeding occurs in young girls, it is always of clinical importance. The diagnosis should be made with some urgency, so that an appropriate therapy will be given in time. We present a rare case of a 6-year-old girl with primary hypothyroidism, who presented with a history of cyclical vaginal bleeding and precocious puberty while her bone age was delayed. thyroxine therapy was commenced soon after diagnosis, the bleeding consequently stopped and there was no recurrence after six-month of follow-up.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
9/29. Polycystic ovaries, precocious puberty and acquired hypothyroidism: The Van Wyk and Grumbach syndrome.Long-standing acquired hypothyroidism can rarely be associated with precocious puberty and polycystic ovaries. The authors report such a case, which responded to the simple replacement of thyroid hormone. It is important to look for hypothyroidism in girls with ovarian masses and precocious puberty to avoid surgery on the ovaries.- - - - - - - - - - ranking = 6keywords = puberty (Clic here for more details about this article) |
10/29. tuberous sclerosis with hypothyroidism and precocious puberty.tuberous sclerosis complex has been associated though infrequently, with abnormalities in the endocrine tissues. Alterations in thyroid function, in patients with tuberous sclerosis have been reported rarely. We report a patient with tuberous sclerosis complex who presented with hypothyroidism and precocious puberty.- - - - - - - - - - ranking = 5keywords = puberty (Clic here for more details about this article) |
| | Next -> |