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PubMed1984

Comparison of physiological indicators of chronic stress in confined and nonconfined gilts.

Two experiments were conducted to determine if confinement-induced delayed puberty in gilts was due to chronic physiological stress imposed by confinement housing. In both experiments, crossbred gilts, raised in total confinement, were moved to an outside dirt lot (nonconfined) or to a single pen in a confinement finishing unit (confined) at 100 to 110 d of age. Beginning at 150 d of age, estrus was checked daily with a boar to determine age at first estrus. Gilts were necropsied at 270 d of age. In Exp. I, 19 confined and 19 nonconfined gilts were cannulated by jugular puncture at 185 d of age. The day after cannulation, blood samples were collected for 4 h, 200 IU porcine adrenocorticoptropic hormone (ACTH) was injected via the cannulae and blood samples were collected for an additional 8 h. Serum cortisol, progesterone, luteinizing hormone (LH) and prolactin (PRL) concentrations were determined. In Exp. II, both jugular veins of six confined and six nonconfined gilts were cannulated at 204 d of age. The day after cannulation, blood samples were collected for 4 h and cortisol was continuously infused for the last 2 h of the blood collection period. Cortisol metabolic clearance rate (MCR) and secretion rate (SR) were determined. By 270 d of age, 21 of 28 (75%) nonconfined gilts and 11 of 31 (35.5%) confined gilts (P less than .01) in Exp. I and 18 of 25 (72%) nonconfined gilts and 12 of 25 (48%) confined gilts (P less than .06) in Exp. II had exhibited estrus and ovulated.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1984

Relationship between LH and testicular development in progesterone-implanted prepubertal ram lambs.

The relationship between systemic luteinizing hormone (LH) and testicular development was investigated in Finn and Suffolk ram lambs treated at 2 wk of age with sc progesterone implants for 0, 4, 8 or 12 wk. Serial samples of blood (30-min intervals for 3 h) were collected from five rams X breed-1 X treatment-1 at 6, 8, 10, 12, 14, 18 and 22 wk of age plus 1 and 2 wk after implant removal. Scrotal circumference was measured at 10, 14, 18 and 22 wk of age. A testicular biopsy was obtained at 14, 18 and 22 wk for microscopic evaluation of testicular development and spermatogenesis. Pulsatile LH releases occurred 60 to 180 min apart in control lambs between 6 and 22 wk of age; LH secretion was not affected by age except for a decrease (P less than .01) in mean LH at 22 wk. Transient increases in testosterone were found subsequent to LH pulses. Systemic testosterone increased (P less than .01) progressively with age, was higher (P less than .05) in Finn than in Suffolk rams at 18 and 22 wk and was correlated positively (P less than .01) within breeds with seminiferous tubule diameter at 14 wk and with scrotal circumference at 10 and 14 wk. Tubule diameter was larger (P less than .01) but testes size and weight were smaller (P less than .01) in Finn than in Suffolk rams. Progesterone implants decreased (P less than .01) LH secretion at 4, 6, 8, 10 and 12, but not at 14 wk of age; decreased systemic testosterone between 4 and 14 wk; decreased (P less than .01) seminiferous tubule diameter at 14 wk, which was related inversely to duration of progesterone treatment; and delayed puberty from 18 to 22 or more wk in rams implanted from 2 to 10 or 14 wk of age. Both control and treated rams with elongated spermatids at 18 vs 22 or more wk had increased LH secretion, higher systemic testosterone and larger tubule diameter and testes size at a younger age. These results suggest that rate of sexual maturation in ram lambs is related to level of postnatal LH stimulation and to the prepubertal age when increased LH stimulation occurs.

Animals↗
PubMedDate not supplied

Clinical applications of infusion systems.

Continuous delivery of drugs from portable and implantable pumps offers several advantages over intermittent therapy, including control and maintenance of blood levels of the drug within a narrow therapeutic range, and increased predictability of response. Clinical applications are discussed in the areas of diabetes mellitus, infertility and delayed puberty, iron overload, anticoagulation, analgesia, prevention of premature labour, cardiac arrhythmias, dissolution of gallstones and anticancer therapy.

Analgesics↗
PubMed2000

A risk factor for female fertility and pregnancy: celiac disease.

Celiac disease is a genetically-based intolerance to gluten. In the past, celiac disease has been considered a rare disease of infancy characterized by chronic diarrhea and delayed growth. Besides the overt enteropathy, there are many other forms which appear later in life; target organs are not limited to the gut, but include liver, thyroid, skin and reproductive tract. It is now recognized that celiac disease is a relatively frequent disorder; the overall prevalence is at least 1:300 in Western Europe. Celiac disease may impair the reproductive life of affected women, eliciting delayed puberty, infertility, amenorrhea and precocious menopause. Clinical and epidemiological studies show that female patients with celiac disease are at higher risk of spontaneous abortions, low birth weight of the newborn and reduced duration of lactation. No adequate studies are available on the rate of birth defects in the progeny of affected women; however, celiac disease induces malabsorption and deficiency of factors essential for organogenesis, e.g. iron, folic acid and vitamin K. The overall evidence suggests that celiac disease patients can be a group particularly susceptible to reproductive toxicants; however, the pathogenesis of celiac disease-related reproductive disorders still awaits clarification. At present, like the other pathologies associated with celiac disease, the possible prevention or treatment of reproductive effects can only be achieved through a life-long maintenance of a gluten-free diet.

Adult↗
PubMed1988

Induction of spermatogenesis and fertility in hypogonadotropic azoospermic men by intravenous pulsatile gonadotropin-releasing hormone (GnRH).

Gonadotropin-releasing hormone (GnRH) has only recently become a helpful tool in the medication of hypogonadotropic hypogonadism (HH). Two azoospermic patients with HH who had previously been treated with hCG/hMG because of delayed puberty and each of whom had fathered a child after previous gonadotropin therapy were referred due to secondary failure of hCG/hMG treatment to induce spermatogenesis and fertility. A pulse study where blood was drawn every 15 minutes for LH, FSH and PRL RIAs was performed in each patient, and afterwards a bolus of i.v. GnRH was injected to assess gonadotropin responsiveness. A portable GnRH pump was connected to each patient so that it administered 5-20 micrograms of GnRH i.v. every 89 minutes. Spermatogenesis was first detected after 42 and 78 days respectively in the 2 treated HH men and 4 1/2 months from the start of treatment their wives became pregnant. No thrombophlebitis or other complications of the i.v. therapy occurred. In the case of the first patient, the semen was washed and concentrated and intra-uterine inseminations were carried out in an attempt to shorten the time needed to achieve fertility. The first pregnancy was successfully terminated at 38 weeks with the delivery of 2 heterozygotic normal male babies. The second pregnancy ended in spontaneous delivery of a healthy female. We conclude that i.v. pulsatile, intermittent GnRH administration is a safe, efficient and highly successful means of treating azoospermic men with HH.

Adolescent↗
PubMed1990

Hypogonadism in beta-thalassemic adolescents: a characteristic pituitary-gonadal impairment. The ineffectiveness of long-term iron chelation therapy.

The pituitary-gonadal function was studied in 18 beta-thalassemic female adolescents, 8 with delayed puberty and 10 with primary amenorrhea,treated with repeated transfusions and long-term iron chelation therapy by subcutaneous infusion. A 100 micrograms gonadotropin-releasing hormone (GnRH) test, a double-bolus GnRH test after estradiol administration in non-responders, a 400 micrograms thyrotropin-releasing hormone (TRH) test and a 'high dose' human menopausal gonadotropin (hMG) test were performed. LH and FSH peak levels were significantly lower in thalassemic patients than in controls, both in the 100 micrograms GnRH test (LH was 4.3 +/- 0.7 mIU/ml vs 40.8 +/- 6.0 mIU/ml and FSH 3.3 +/- 0.5 mIU/ml vs 9.6 +/- 1.1 mIU/ml, respectively) and in the double-bolus GnRH test (LH was 2.3 +/- 0.2 mIU/ml vs 59.0 +/- 4.9 mIU/ml and FSH 1.8 +/- 0.3 mIU/ml vs 14.0 +/- 1.0 mIU/ml). The mean prolactin response to the TRH test was 27.8 +/- 3.2 ng/ml. After the 'high dose' hMG test 12 out of 14 admitted patients showed a poor response, lower than 250 pg/ml. Our data suggest that the hypogonadotropic condition of the thalassemic adolescents is due to pituitary hyporesponsiveness to GnRH and that most of these patients also have an impairment of ovarian function. Both conditions are a consequence of iron deposits in glands. Moreover, there is evidence that pituitary-gonadal function cannot be preserved by long-term iron chelation therapy.

Adolescent↗
PubMed1995

Is ovarian adrenergic innervation essential to gonadal function in adult rats?

We studied the relative importance of ovarian innervation during different phases of female rat sexual development, 30, 40, 45 and 60-day-old. Chemical sympathectomy was promoted by long term postnatal treatment with guanethidine (GD), an adrenergic neuron blocking agent. The sympathectomized rats exhibited delayed puberty and alterations in estrous cycle. Reduced circulating E2, LH and Prl levels at 30 days of age were observed, besides decreased steroidal secretory responsiveness to gonadotropins in vitro. On the other hand, normal pituitary secretory responsiveness to LHRH in vivo and plasma gonadotropin concentrations were observed in 60-day-old rats. These data reinforce the view that ovarian sympathetic innervation contributes to the regulation of the prepubertal development of the ovarian functions.

Animals↗
PubMed1989

Testicular germ cell loss in children with renal failure.

Delayed puberty, hypergonadotropism, impaired spermatogenesis, decreased libido and infertility have been reported in males with chronic renal failure (CRF). The number of spermatogonia per seminiferous tubule was quantitated in 22 children with renal failure (RF) in this study using anti-neuron-specific enolase to selectively label these cells. Results were compared to those of puberty and age-matched controls and were subjected to statistical analysis. This study showed that: 1) Children and adolescents with RF have a significantly decreased number of spermatogonia per seminiferous tubule, compared to puberty and age-matched controls; 2) Germinal cell counts in infants with RF under 3 months of age compared to control infants do not reach statistical significance but are borderline; 3) Children with RF over 3 months of age have statistically fewer germinal cells than age-matched controls, a difference which appears to increase with age; 4) Not all children with RF have decreased numbers of spermatogonia while some have an absence of these cells; and 5) The number of spermatogonia per tubule is correlated with increasing age but is not correlated with the duration of RF.

Autopsy↗
PubMed2005

Craniopharyngioma and Cushing disease: case report.

Craniopharyngioma is a common sellar region tumor occurring in children. It usually manifests as endocrinological deficits such as short stature, delayed puberty, and obesity. Patients with craniopharyngioma commonly present with visual deficits and hydrocephalus. The authors present the case of a child who presented with short stature and clinical evidence of Cushing disease (CD) associated with a suprasellar tumor. The patient underwent insertion of an Ommaya reservoir into the tumor's cystic portion. High adrenocorticotropic hormone (ACTH) levels were demonstrated within the cyst's fluid and in the serum. After adequate decompression of the tumor, the patient underwent total resection. The tumor pathology was compatible with an adamantinomatous craniopharyngioma and immunohistochemical studies failed to show staining for ACTH. Panhypopituitarism developed postoperatively in the patient and he received hormone substitution therapy with final adequate height and normal-high weight. The neurosurgical implications of CD along with a possible mechanism for this patient's presentation are discussed in detail on the basis of the pertinent literature.

Adolescent↗
PubMed1999

De novo development of a cavernous malformation of the spinal cord following spinal axis radiation. Case report.

Analysis of recent reports has suggested that cavernous malformations (CMs) of the brain may have an acquired pathogenesis and a dynamic pathophysiological composition, with documented appearance of new lesions in familial cases and following radiotherapy. The authors report the first case of demonstrated de novo formation of an intramedullary CM following spinal radiation therapy. A 17 year-old boy presented with diabetes insipidus and delayed puberty. Evaluation of endocrine levels revealed hypopituitarism, and magnetic resonance (MR) imaging demonstrated an infundibular mass. The patient underwent a pterional craniotomy and removal of an infundibular germinoma. The MR image of the spine demonstrated normal results. The patient received craniospinal radiation therapy and did well. He presented 5 years later with acute onset of back pain, lower-extremity weakness and numbness, and difficulty with urination. An MR image obtained of the spine revealed an intramedullary T-7 lesion; its signal characteristics were consistent with a CM. The patient was initially managed conservatively but developed progressive myelopathy and partial Brown-Séquard syndrome. Although he received high-dose steroids and bed rest, his symptoms worsened. He underwent a costotransversectomy and excision of a hemorrhagic vascular lesion via an anterolateral myelotomy. Pathological examination confirmed features of a CM. The patient has done well and was walking without assistance within 4 weeks of surgery. De novo genesis of CMs may be associated with prior radiation therapy to the spinal cord.

Abnormalities, Radiation-Induced↗
PubMed1993

A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation.

We describe a case of the juvenile form of Pompe's disease that presented as primary alveolar hypoventilation due to respiratory muscle involvement. This 17-year-old girl had been asymptomatic until this admission, although she had a delayed puberty. Arterial blood gas analysis, pulmonary function test as well as physical findings were compatible with chronic alveolar hypoventilation syndrome. Since she had lower extremity muscle weakness and pseudomyotonic discharge on electromyography a muscle biopsy was done, which revealed glycogen storage disease. The patient was managed successfully with nasal intermittent positive pressure ventilation.

Adolescent↗
PubMed2004

Mutation analysis of the KAL gene in female patients with gonadotropin-releasing hormone deficiency.

Isolated gonadotropin-releasing hormone (GnRH) deficiency, including Kallmann's syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH), is a congenital disorder, which is characterized by a functional deficit in hypothalamic GnRH secretion. Despite recent advances in the understanding of the pathogenesis of the X-linked form of KS as the identification of the KAL gene (Xp22.3), the genetic basis of the sporadic form in female patients remains unclear. Although most searches for mutations in X chromosome have been reported in males, the newly recognized phenomenon of inheritance, such as genomic imprinting and uniparental disomy, raises the possibility of a female phenotype in the X- linked genetic defect. Here, the molecular study of the coding region of the KAL gene (exon 5 to 14) in 10 unrelated females with KS (n=6) or IHH (n=4) is reported. None of the subjects had familial histories of delayed puberty or hypogonadism. Samples from 4 healthy, unrelated female volunteers were used for identification of polymorphisms. PCR of the 10 exons of the KAL gene was performed on genomic DNA. The PCR products of the 10 exons were subject to single strand conformation polymorphism (SSCP) analysis to identify possible mutations. In an SSCP analysis of the amplified fragments (fragment size: 147 to 302 bp), no mutations or polymorphisms were found in any of the 10 patients and 4 controls. In conclusion, it is unlikely that KAL gene mutations are a clinically significant cause of sporadic GnRH deficiency in female patients, indicating the existence of defects in unidentified genes that result in the expression of the phenotypes in females.

Adolescent↗
PubMed2005

Clinical and cytogenetic findings in 14 patients with madelung anomaly.

Madelung deformity of the wrist is a congenital defect caused by a growth disturbance in the volar-ulnar distal radial physis leading to a typical appearance of the upper extremities. The majority of Madelung deformity case caused by hereditary dyschondrosteosis of the wrist. In a number of instances, the disease has a genetic etiology. This article reports the clinical and cytogenetic findings associated with Madelung deformity in 14 patients. Results indicate Madelung anomaly often is associated with additional clinical abnormalities, particularly delayed puberty and menstrual disorders, as well as sexual chromosome aberrations.

Adolescent↗
PubMedDate not supplied

Reversible subclinical hypothyroidism in the presence of adrenal insufficiency.

OBJECTIVE: To describe 3 different scenarios of reversible hypothyroidism in young patients with adrenal insufficiency. METHODS: We present 3 case reports of patients with adrenal insufficiency--one with delayed puberty, the second with type 1 diabetes and poor weight gain, and the third with hypoglycemia-related seizures and glucocorticoid deficiency--who had biochemical evidence of hypothyroidism. RESULTS: Our first patient (case 1) initially had a mildly elevated thyrotropin (thyroid-stimulating hormone or TSH) level and a normal free thyroxine (FT4) level that, on follow-up assessment, had progressed to persistent mild elevation of TSH and low FT4 concentration. The other 2 patients (cases 2 and 3) had low FT4 and mildly elevated TSH values at the time of diagnosis of adrenal insufficiency. In all 3 patients, the results of thyroid function tests normalized with use of physiologic doses of adrenal hormone replacement therapy, without thyroid hormone replacement. All 3 patients remained euthyroid after 4, 3, and 1 year of follow-up, respectively. CONCLUSION: These observations add insights into the complexities of the thyroadrenal interactions. These examples are important because thyroid hormone replacement in the setting of adrenal insufficiency could be unwarranted.

Adolescent↗
PubMed1998

Pediatric renal transplantation: indications and special considerations. A position paper from the Pediatric Committee of the American Society of Transplant Physicians.

Renal transplantation of children with chronic renal insufficiency (CRI) and end-stage renal disease (ESRD) appears to be the optimal form of renal replacement therapy. This report, which expresses the opinions of the nephrology members of the Pediatric Committee of the American Society of Transplant Physicians, discusses the indications for pediatric renal transplantation and identifies the unique aspects of caring for children with CRI and ESRD. Indications for pediatric renal transplantation include: 1) symptoms of uremia not responsive to standard therapy; 2) failure to thrive due to limitations in total caloric intake; 3) delayed psychomotor development; 4) hypervolemia; 5) hyperkalemia; and 6) metabolic bone disease due to renal osteodystrophy. The urgency and timing of renal transplantation in children must be considered in the context of a number of issues unique to children with CRI and ESRD such as delayed cognitive and educational performance, growth retardation, delayed puberty, etiology of ESRD, and timing of immunizations. In addition, these children frequently display various inherited and sporadic syndromes with multiorgan involvement requiring the expertise of a variety of pediatric subspecialists including the pediatric urologist, who plays a critical role in the evaluation of children with obstructive uropathy and other anomalies of the genito-urinary system. The advantages of a living-related donor are also delineated. The importance of adequate immunosuppression on graft function, early recognition of the signs and symptoms acute rejection, preventive strategies for minimizing the morbidity and mortality from viral infections in the post-transplant period, and the impact of transplantation on cognitive function, educational status, and catch-up growth are also discussed. To address these complex issues, transplant care of pediatric patients must be provided by a multidisciplinary team of pediatric health care professionals.

Child↗
PubMed1999

Reproduction in water buffalo: comparative aspects and implications for management.

The domestic buffalo occupies an important niche in many ecologically disadvantaged agricultural systems, providing milk, meat and draught power. Although buffalo can adapt to harsh environments and live on low quality forage, their reproductive efficiency is often compromised by such conditions. Climatic stress depresses ovarian cyclicity, oestrous expression and conception rates. Poor nutrition, usually related to seasonal fluctuations in availability and quality of feed, delays puberty and increases the duration of postpartum anoestrus. Management factors such as the system of grazing (free, tethered or none) and sucking by calves (restricted or ad libitum) also modulate reproductive functions. Finally, the skills and capabilities of farmers as well as the quality of support services such as artificial insemination and disease control also influence fertility. The relative importance of these factors vary greatly depending on ecological conditions and production systems. Improvement of reproductive efficiency therefore requires the identification of specific limiting factors under a given situation and the development and field testing of strategies for improvements and interventions that are sustainable with available local resources. The application of modern reproductive technologies in buffaloes requires an appreciation of their biology and reproductive physiology as well as the potentials and limitations under each specific production system.

Animal Husbandry↗
PubMedDate not supplied

Autoimmune manifestations in patients with primary immunodeficiency.

Primary immunodeficiency comprises a heterogeneous group of disorders. Autoimmune and/or rheumatic manifestations are not uncommon in these patients. It may be the first and/or sole sign before the underlying disease is established. This study focuses on the children of primary immunodeficiency with autoimmune disease to survey the clinical and laboratory finding retrospectively. From January 1985 to June 1998, ten patients (M:F = 9:1) of primary immunodeficiency with at least one well defined autoimmune disease were identified. The underlying immunodeficiency included three with Bruton's disease, three with common variable immunodeficiency, one with hyper-IgM, one with primary CD4 T-cell deficiency and two with Wiskott-Aldrich syndrome. The autoimmune manifestations include arthritis in six, ulcerative colitis in one, and autoimmune hemolytic anemia in three children. The major treatment was steroid and non-steroid anti-inflammatory drug. Infection could be controlled with antibiotics and intravenous immunoglobulin in all save one. The morbidity among these patients included bronchiectasis with pulmonary hypertension in three, joint stiffness, short stature, and delayed puberty in two. In conclusion, autoimmune diseases are frequently seen in patients with primary immunodeficiency. It could be the first and/or sole sign of disease. The possibility of immunodeficiency should be kept in mind when evaluating patients with autoimmune diseases.

Autoimmune Diseases↗
PubMed2000

[A case of Kallmann syndrome: diagnostic usefulness of cranial magnetic resonance imaging].

We report a case of Kallmann syndrome in which the cranial magnetic resonance imaging (MRI) findings of the olfactory tract were useful in making the diagnosis. A 20-year-old male who complained of delayed puberty was referred to our hospital in November 1998. He presented with hypogonadism and anosmia. The plasma levels of testosterone, luteinizing hormone (LH) and follicle stimulating hormone (FSH) were low. Pituitary and Leydig cell functions were normal by the LH-releasing hormone test and human chorionic gonadotropin (hCG) loading test, respectively. The karyotype was normal (46, XY). The smell test showed anosmia. After administration of hCG, a good response of plasma testosterone level and masculinization were recognized. Cranial MRI findings revealed an absence of olfactory bulbs and hypoplastic olfactory sulci. These MRI findings are characteristic of Kallmann syndrome and allowed us to confirm our diagnosis, in addition to classically used endocrinological and olfactory examination.

Adult↗