Cases reported "Hypogonadism"

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1/13. Successful pregnancy following gonadotropin therapy in a patient with hypogonadotropic hypogonadism resulting from craniopharyngioma.

    The authors report a rare case of a patient with panhypopituitarism who became pregnant by gonadotropin therapy and gave birth to a healthy baby. A brain tumour and/or the surgical resection of a brain tumour occasionally results in pituitary dysfunction. An 18-year-old Japanese patient developed hypogonadotropic secondary amenorrhoea because of a craniopharyngioma, which was surgically removed. The patient came to us, and peripheral blood was collected every 15 minutes for four hours. The levels of luteinising hormone (LH) and follicle-stimulating hormone (FSH) were measured. Results showed that LH and FSH levels were very low and did not fluctuate. Several years later, the patient complained of infertility, and treatment with human menopausal gonadotropin (hMG) and human chorionic gonadotropin (hCG) was started. The therapy was repeated for several cycles, but she did not conceive, so hMG-hCG therapy combined with conjugated oestrogen administration was started. The patient became pregnant at the seventh cycle of this combined therapy. She was not treated with supplementary growth hormone.
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2/13. Cyclic estrogen-progestin hormone therapy as a new therapeutic approach in the treatment of functional alterations of the hypothalamus-pituitary-ovary axis: case reports.

    amenorrhea is a clinical condition characterized by failure of menarche or by the absence of menstruation for six months in a woman with previous periodic menses. We report a first case of a 30 year-old woman affected by polycystic ovarian disease (PCOD) whose amenorrhea ceased after a 6-month combination treatment with cyclic estradiol-norethisterone acetate. After the withdrawal of the hormone therapy, a stable recovery of periodic menses was observed. We describe a second case of a 23 year-old woman whose amenorrhea was caused by a hypogonadotropic hypogonadism due to a non-functioning pituitary adenoma. After the administration of the previously described therapy both a disappearance of the adenoma and a recover of periodic menses were observed. We hypothesized that the outcomes in our cases could be the consequence of a balancing action induced by the exogenous hormone administration. The exogenous hormones may have reset the feedback between the hypothalamus and pituitary gland through mimicking the physiological hormones pattern of the 28-day cycle.
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3/13. pregnancy and delivery after stimulation with rFSH of a galatosemia patient suffering hypergonadotropic hypogonadism: case report.

    PURPOSE: To determine if hypergonadotropic hypogonadism related to galactosemia could be linked to anomaly of the circulating FSH. A 26-year-old woman, suffering GALT (Galactoso-1-phosphate uridyltransferase) had a premature ovarian failure with amenorrhea since the age of 19. The circulating level for FSH was 83 and 34 mU/mL for LH. methods: After treatment with a hormonal substitution cycle including estradiol and progesterone, the patient underwent stimulations with recombinant FSH. The first cycle, one 16-mm diameter follicle and the second cycle one follicle of 17.5 mm of diameter were obtained at the time of ovulation induction. RESULTS: The patient conceived and delivered a female baby weighting 3.38 kg after the second stimulation protocol. CONCLUSIONS: The impact of galactosemia on the ovary seems rather related to the absence of recognition of circulating FSH by its receptor and not to a toxic alteration of the ovary by itself as it is currently reported. The rFSH treatment following hormonal substitution cycles allows to overcome infertility problems.
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4/13. Testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) in hypogonadotropic hypogonadism with persistent azoospermia after hormonal therapy.

    PURPOSE: We aimed to retrieve testicular sperm to be employed on intracytoplasmic sperm injection (ICSI) cycles on a male affected of hypogonadotropic hypogonadism (HH) that remained azoospermic after long-time hormonal treatment. methods: Design. We initially performed hormonal therapy using gonadotropins to achieve spermatogenesis. After several semen analyses, we weighed the possibility of looking for testicular spermatozoa for ICSI. Setting. A private university-affiliated setting. Patient. A 30-years-old man diagnosed 10 years ago to suffer from idiopathic, prepubertal HH. Interventions. Gonadotrophin treatment was initiated with hCG and follicle stimulating hormone (FSH). Testicular sperm extraction was carried out when repeated spermiograms were negative. Motile testicular spermatozoa were cryopreserved and were subsequently employed for ICSI. Multiple follicular development was stimulated with gonadotropins after a downregulation with gonadotropin-releasing hormone (GnRH) antagonists in the woman. Main Outcome Measures. Seminal analyses were performed after 3, 6, and 12 months of treatment and serum FSH, luteinizing hormone (LH) and testosterone levels were also measured. RESULTS: Seminal analysis showed always azoospermia. serum FSH was 2.9 mIU/mL, serum LH >1 mIU/mL and serum testosterone 7.9 ng/mL (12 months after treatment). Nine oocytes were collected by ultrasound-guided transvaginal route and eight of them were microinjected with motile, frozen-thawed testicular spermatozoa. Four oocytes were fertilized. Three embryos were transferred without pregnancy. CONCLUSIONS: The case report here presented shows that the currently available assisted reproduction techniques may be of value in patients with HH not responding to conventional hormonal treatments.
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5/13. Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance.

    The IMAGe (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies) association (online inheritance in man 300290) is a recently reported disorder comprising intrauterine growth retardation (IUGR), metaphyseal dysplasia, adrenal hypoplasia, and genital anomalies. Four children (three males, one female) from a large pedigree (five generations) were studied. Additional members (n = 10), who died during the neonatal period, were born with IUGR and/or hyperpigmentation and are presumed to have been affected, too. All patients in this series were diagnosed during the newborn period. Minimal clinical features and laboratory findings differ with previously reported patients, suggesting variants in their clinical expression. adrenal insufficiency was variable within patients. All had severe IUGR and marked postnatal growth failure. sequence analysis of dna using an automated cycle from two patients revealed no mutation in the dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the x chromosome, gene 1. Analysis of the pedigree showed that the disease is inherited via the maternal line, even in the dead children with suspicion of the disease. Hence, the pattern of inheritance in this family of this unusual disorder might be explained in terms of the genomic imprinting hypothesis with expression through maternal transmission involving an autosomal gene. This transmission may have considerable implications for genetic counseling. Furthermore, pediatric endocrinologists must be aware of the possible occurrence of this life-threatening condition in the offspring of nonaffected women when related to a family member with the association of IUGR, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies.
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6/13. Combined growth hormone and gonadotropin treatment for ovulation induction in patients with non-responsive ovaries.

    Four anovulatory patients who did not respond to large doses of hMG over 18-33 days were co-treated in subsequent cycles with human growth hormone. Treatment with growth hormone markedly raised serum insulin-like growth factor concentrations. Two patients had a dramatic ovarian response within 7 days of co-treatment; two menopausal patients did not respond. This combined therapy may be of practical value for ovulation induction in non-menopausal patients with non-responsive ovaries.
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7/13. kallmann syndrome: a case of twin pregnancy and review of the literature.

    In order to evaluate the possibilities for induction of ovulation, the functional competence of the pituitary gland of a woman with kallmann syndrome was examined by two consecutive dynamic GnRH tests. The second test was conducted after 1 week's treatment by a GnRH pump. The results, which showed some rise of LH but no response of FSH, favored induction by hMG/hCG therapy. Three treatment cycles resulted in a twin pregnancy which was normal and was carried to term. review of the literature shows only six previously reported pregnancies in women with kallmann syndrome. Five of them were treated by hMG/hCG, and one by pulsatile GnRH. The two methods of induction are discussed in relation to the heterogeneity of the pituitary and ovarian function in kallmann syndrome. We show that this heterogeneity dictates that the treatment for induction of ovulation should be individually adjusted according to the pituitary and ovarian competence.
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8/13. Familial idiopathic hypogonadotrophic hypogonadism.

    A new case of familial idiopathic hypogonadotrophic hypogonadism is presented: 3 males and 2 females among 9 siblings are affected. Very low to non-detectable levels of plasma LH and FSH levels were found in each patient. LH-RH stimulation test gave in one male a slight increase in plasma LH levels while no change was observed in the others. Prolonged treatment with gonadotrophins or testosterone gave poor results in the males while evidence of ovulation was obtained in the two females during a unique induced artificial cycle with combined HMG and HCG treatment; rapid feminization was also obtained in the females with oestrogen therapy. The striking difference in the results of the substitution treatments between males and females suggest that some degree of acquired insensitivity of the testes to gonadotrophins and of peripheral tissues to male sex hormones are present in male hypogonadotrophic hypogonadism. This may be the consequence of a lack of hormonal stimulation or impregnation during infancy and childhood
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9/13. pregnancy in hypothalamic hypopituitarism.

    pregnancy in hypopituitarism is distinctly rare. The authors have recently seen a 26-year-old white woman who had amenorrhea. Endocrine evaluation demonstrated hypogonadotropic hypogonadism, decreased adrenocorticotropic hormone reserve, and low normal thyroid function. The patient, treated with estrogen replacement for a few cycles and with physiologic doses of hydrocortisone, spontaneously conceived and delivered a premature infant. The circumstantial evidence favored the occurrence of a spontaneous ovulation. The possibility that prior administration of cyclic estrogens and/or physiologic doses of cortisone facilitated gonadotropin release and subsequent ovulation remains unclear but cannot be completely excluded. The onset of premature labor may have been related to hypofunction of the anterior pituitary.
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10/13. virilism as a late manifestation in the bardet-biedl syndrome.

    The second case of virilism as a late manifestation of bardet-biedl syndrome (BBS) is described, with endocrine and histological evaluation. Both cases manifested ovulatory cycles and developed virilism in adulthood. Elevated plasma testosterone and 17-OH-progesterone were not suppressed by dexamethasone but were suppressed by medroxyprogesterone acetate. Peripheral and ovarian venous blood obtained at the time of surgery demonstrated a marked gradient for testosterone in both ovaries and for progesterone in the ovary bearing the corpus luteum. Histological evaluation of the ovaries demonstrated bilateral ovarian stromal hyperplasia with focal hyperthecosis. Bilateral ovariectomy resulted in complete correction of the endocrine abnormality, although the established hirsutism remains a mark of previous androgen excess.
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