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PubMed2003

Gonadal function and pubertal development after treatment of a childhood malignancy.

As survival rates for childhood cancer have improved, the importance of assessing gonadal dysfunction caused by alkylating agents and radiotherapy in children treated for cancer has increased. Infertility is the major long-term side effect of chemotherapy (CT) in males, whereas Leydig cell function is less affected. Our studies confirm that prepuberty does not protect the male gonad from the late effects of CT and that protocols less gonadal-lesive (such as ABVD regimens) should be preferred. Ovaries are less affected, but early depletion of follicles and premature menopause may occur. High-dose busulfan conditioning regimens cause ovarian failure in young females. The role of gonadal irradiation is discussed: high dosages (>2000 cGy) provoke sterility, impaired testosterone secretion in males and estradiol release in females. High dosage hypothalamic-pituitary irradiation causes delayed puberty and hypogonadism in males and females, whereas lower dosages may be associated with early puberty, particularly in females.

Antineoplastic Agents↗
PubMed2003

A high-resolution genetic and physical map of a mouse coat abnormality locus (Uncv).

More than a hundred of loci (genes) affect the development of mouse and human hair. A locus of Uncv (uncovered) has been confirmed to be involved in hairlessness for homozygote and sparse hair for heterozygote. Except hairlessness(or called uncovered coat), the homozygote was also accompanied by growth retard and puberty delay. Identification of the mutation in the gene will be important for understanding the related diseases in human. Although the uncovered locus (Uncv) has been mapped to the mouse distal chromosome 11(Chr11), the high-resolution genetic map and physical map of the locus has not been created. In this study, 2074 F2 mouse populations from backcross [BALB/c (Uncv/Uncv) x C3H (+/+)]x BALB/c (Uncv/Uncv) and [BALB/c (Uncv/Uncv) x C57BL/6 (+/+)] x BALB/c(Uncv/ Uncv) were genotyped using 16 polymorphic markers with an approximately 20 cM interval on mouse distal Chr11. By genetic linkage analysis, Uncv locus was mapped to an approximately 1.4 cM interval between markers D11Mit337 and D11Mit338 with the following order: proximal D11Mit338-D11Mit203 (Uncv)-D11Mit103 -D11Mit337 distal on mouse Chr11. And then, a contig of 35 BACs representing the Uncv-containing region was constructed. The contig covered 800-1000 kb region flanked by 189K10-SP6 and D11Mit103. Together, we have constructed the high-resolution genetic map and detailed physical map of the Uncv region. This will facilitate the identification of the Uncv loci.

Animals↗
PubMed2003

A 20-year follow-up of a male patient with type Ia glycogen storage disease.

Glycogen storage diseases (GSDs) or glycogenoses comprise several rare inherited diseases caused by abnormalities of the enzymes that regulate the synthesis or degradation of glycogen. We report on a male patient with type Ia GSD (GSD Ia) who was followed-up for more than 20 years. He had been diagnosed with GSD Ia based on biochemical tests and the glucose-6-phosphatase (G6Pase) enzyme assay from a liver biopsy at 6 years old, due to problems of hepatomegaly, growth retardation, and recurrent hypoglycemic episodes. The introduction of uncooked cornstarch improved his quality of life only in the first 8-year follow-up period. At 17 years old, gouty arthritis with multiple tophi and generalized xanthomatosis developed. Later, hepatocellular adenoma, nephrolithiasis, and gastrointestinal bleeding occurred at the age of 20, 23, and 24 years, respectively. At 26 years old, he suffered from acute renal failure and polyradiculoplexopathy. The problem of delayed puberty persisted. The story of this patient illustrates the multisystemic nature of GSD Ia and highlights the need for careful dietary therapy and long-term follow-up.

Adult↗
PubMed2003

[Casual analysis of menstrual disorders in adolescent girls].

OBJECTIVES: Menstrual disorders are very common during the early postmenarcheal years. This study was undertaken to determine the causes of menstrual disorders in adolescents. MATERIALS AND METHODS: In the research there were included 117 girls 14-18 years old without evidence of androgen excess (hirsutism, acne): the study group consisted of 87 adolescents with menstrual disorders and the control group of 30 girls with regular menstrual cycles. All the patients underwent gynecological and ultrasound examination and an analysis of the hormonal status. RESULTS: The data from our investigation show that 43.7% of adolescents with menstrual dysfunction have eating disorders, 16.1%--immaturity of hypothalamic-pituitary-ovarian axis, 13.8%--polycystic ovary syndrome, 9.2%--hyperprolactinemia, 4.6%--delayed puberty, 3.4%--genetic defect and 9.2% other reasons. CONCLUSIONS: A thorough history and physical examination focusing on the basic understanding of pubertal and menstrual physiology and pathology allows to obtain an accurate diagnosis. The prognosis for later fertility depends on the preventive measures token in adolescence.

Adolescent↗
PubMedDate not supplied

[The role and importance of an elemental diet in the treatment of Crohn's disease in children].

Crohn's disease plays an important role in children's pathology. There is an increase in its incidence last decades. The etiology of Crohn's disease isn't yet known. The aim of therapy is to induce remission of the symptoms and disease's activity. Drug treatment as well as surgical procedures according to the side-effects and short-lasting effect have not shown to be satisfactory so far. Very important feature of Crohn's disease is growth retardation as well as puberty delay what is even emphasized by corticosteroid therapy which these children are quite long on. Recent research has shown that an elemental diet is as effective as corticosteroid therapy in inducing remission. Its positive effect on growth has been especially emphasized. It is not still certain how the elemental diet acts. It is supposed that its useful effects are achieved by its complete absorption without the need for extra digestion, by bowel rest, hypoallergenicity, changing in intestinal microflora, by caloric intake and reducing protein exudation by a direct influence on the mucosa of the small intestine. Because of all previously mentioned the elemental diet is recommended as a treatment of choice, especially for the nonstenositing features of Crohn's disease of the small intestine.

Child↗
PubMed2004

New concepts in anorexia nervosa.

Anorexia nervosa (AN), a psychosomatic disorder, has serious negative effects on multiple organs and systems of the human body. A large number of endocrine and metabolic anomalies have been described, including amenorrhea/oligomenorrhea, delayed puberty, hypothyroidism, hypercortisolism, and alterations in the growth hormone (GH) axis and bone metabolism. The role of different peptides, including ghrelin, leptin, neuropeptide Y and serotonin, in the regulation of appetite is discussed. In addition, isolated hypogonadotropic hypogonadism that occurs in these patients is analyzed in detail, as well as the abnormalities in the growth hormone axis. Alterations in bone mineral density, bone markers and the degree of osteopenia in these patients, depending on the age at which amenorrhea began and its duration, are also discussed. Finally, our current understanding of the possible benefits of treatment with estrogens and progestogens is also analyzed.

Anorexia Nervosa↗
PubMed2004

[GnRH deficiency: new insights from genetics].

The acquisition of a sexually dimorphic phenotype is a critical event in mammalian development. Hypogonadotropic hypogonadism (HH) results from impaired secretion of GnRH. The patients display with delayed puberty, micropenis and cryptorchidism in the male reflecting gonadotropin insufficiency, and amenorrhea in the female. Kallmann's syndrome (KS) is defined by the association of HH and anosmia or hyposmia (absent smelling sense). Segregation analysis in familial cases has demonstrated diverse inheritance patterns, suggesting the existence of several genes regulating GnRH secretion. The X-linked form of the disease was associated with a genetic defect in the KALI gene located on the Xp22.3 region. KAL1 gene encodes an extracellular matrix glycoprotein anosmin-1, which facilitates neuronal growth and migration. Abnormalities in the migratory processes of the GnRH neurons with the olfactory neurons explain the association of HH with anosmia. Recently, mutations in the FGF recepteur 1 (FGFR1) gene were found in KS with autosomal dominant mode of inheritance. The role of FGFR1 in the function of reproduction requires further investigation. Besides HH with anosmia, there are isolated HH (IHH). No human GnRH mutations have been reported although hypogonadal mice due to a GnRH gene deletion exist. In patients with idiopathic HH and without anosmia an increasing number of GnRH receptor (GnRHR) mutations have been described which represent about 50% of familial cases. The clinical features are highly variable and there is a good relationship between genotype and phenotype. A complete loss of function is associated with the most severe phenotype with resistance to pulsatile GnRH treatment, absence of puberty and cryptorchidism in the male. In contrast, milder loss of function mutations causes incomplete failure of pubertal development. The preponderant role of GnRH in the secretion of LH by the gonadotrophs explains the difference of the phenotype between male and female with partial GnRH resistance. Affected females can have spontaneous telarche and normal breast development while affected males exhibit no pubertal development but normal testis volume, a feature described as "fertile-eunuch". High-dose pulsatile GnRH has been used to induce ovulation. Another gene, called GPR54, responsible for idiopathic HH has been recently described by segregation analysis in two different consanguineous families. The GPR54 gene is an orphan receptor, and its putative ligand is the product of the KISS-1 gene, called metastine. Their roles in the function of reproduction are still unknown.

Amino Acid Sequence↗
PubMed2004

[The impact of prolactinoma in human reproduction].

AIMS: Prolactinomas represent a 60% of pituitary tumors with various symptoms, hormonal and reproductive abnormalities. OBJECTIVE: Assessment of epidemiology of prolactinomas in our hospital. PATIENTS AND METHOD: We reviewed the clinical charts of 32 patients seen throughout 1991-2001. RESULTS: Twenty seven patients (84%) were females and 5 (16%) males. Average age was 30.3 +/- SD 11.3 years with a range of 6 to 58 years. Menstrual irregularities was the most frequent finding in patients with micro and macroadenoma; infertility was seen in 4 (33%) patients with pituitary microadenoma and 2 (10%) with macroadenoma. A patient with macroadenoma had delayed puberty and another with microadenoma isosexual precocious puberty. All cases showed hyperprolactinemia (microadenomas x 94.5 +/- SD 96.4 ng/mL; macroadenomas x 108.8 +/- SD 79.4 ng/mL). Hypothyroidism and hypogonadal hypogonadotropism were the most common associated diagnoses before an after treatment for both groups. Radiologic presence of microadenoma was observed in 12 (38%) patients and in 20 (26%) with macroadenoma. Bitemporal hemianopsia was the most common finding during visual field evaluation (28% microadenoma, 44% macroadenoma). Pharmacologic treatment with bromocriptine (2.5 - 7.5 mg) prevailed and showed a major impact upon symptoms improvement and significant decrease of serum prolactin levels (p < 0.05). Only five patients out of 20 who underwent surgery developed transient diabetes insipidus. Tumor relapse was observed in 10 (63%) of 16 patients with macroadenomas that required surgery. CONCLUSIONS: In our study prolactinomas prevailed among females in reproductive age with a higher incidence of macroadenomas. The most common alterations related to reproductive tract were menstrual irregularities, galactorrhea, infertility, hyperprolactinemia, hypogonadism and hypothyroidism. Abnormalities of puberty were also seen. Treatment with dopaminergic agonists (bromocriptine) was highly effective to decrease prolactin circulating levels.

Adolescent↗
PubMed2003

Prevention and management of osteoporosis.

Bone is hard tissue that is in a constant state of flux, being built up by bone-forming cells called osteoblasts while also being broken down or resorbed by cells known as osteoclasts. During childhood and adolescence, bone formation is dominant; bone length and girth increase with age, ending at early adulthood when peak bone mass is attained. Males generally exhibit a longer growth period, resulting in bones of greater size and overall strength. In males after the age of 20, bone resorbtion becomes predominant, and bone mineral content declines about 4% per decade. Females tend to maintain peak mineral content until menopause, after which time it declines about 15% per decade. Osteoporosis is a disease characterized by low bone mass and structural deterioration of bone tissue, leading to bone fragility and an increased susceptibility to fractures, especially of the hip, spine, and wrist. Osteoporosis occurs primarily as a result of normal ageing, but can arise as a result of impaired development of peak bone mass (e.g. due to delayed puberty or undernutrition) or excessive bone loss during adulthood (e.g. due to estrogen deficiency in women, undernutrition, or corticosteroid use). Osteoporosis-induced fractures cause a great burden to society. Hip fractures are the most serious, as they nearly always result in hospitalization, are fatal about 20% of the time, and produce permanent disability about half the time. Fracture rates increase rapidly with age and the lifetime risk of fracture in 50 year-old women is about 40%, similar to that for coronary heart disease. In 1990, there were 1.7 million hip fractures alone worldwide; with changes in population demographics, this figure is expected to rise to 6 million by 2050. To help describe the nature and consequences of osteoporosis, as well as strategies for its prevention and management, a WHO Scientific Group meeting of international experts was held in Geneva, which resulted in this technical report. This monograph describes in detail normal bone development and the causes and risk factors for developing osteoporosis. The burden of osteoporosis is characterized in terms of mortality, morbidity, and economic costs. Methods for its prevention and treatment are discussed in detail for both pharmacological and non-pharmacological approaches. For each approach, the strength of the scientific evidence is presented. The report also provides cost-analysis information for potential interventions, and discusses important aspects of developing national policies to deal with osteoporosis. Recommendations are made to the general population, care providers, health administrators, and researchers. Lastly, national organizations and support groups are listed by country.

Aged↗
PubMed2004

Cystic fibrosis as a cause of infertility.

Cystic fibrosis (CF) is one of the autosomal recessive diseases, caused by mutations in a gene known as cystic fibrosis transmembrane regulator (CFTR). The majority of adult males with CF (99%) is characterized by congenital bilateral absence of vas deferens (CBAVD). CBAVD is encountered in 1-2% of infertile males without CF. Females with CF are found to be less fertile than normal healthy women. In females with CF, delayed puberty and amenorrhoea are common due to malnutrition. CFTR mutations are also associated with congenital absence of the uterus and vagina (CAUV). The National Institutes of Health recommend genetic counseling for any couple seeking assisted reproductive techniques with a CF male or obstructive azoospermia which is positive for a CF mutation.

Cystic Fibrosis↗
PubMed2004

[Diagnosis and treatment of hypogonadism in adult males].

Hypogonadism in men is defined as endocrine dysfunction of the testes, and due to reduced serum testosterone levels leads to symptoms of testosterone deficiency. Depending on the location of disruption in the endocrinological cycle, hypogonadism is classified as primary, secondary, or tertiary. In primary hypogonadism, the production of testosterone in the Leydig's cells of the testes does not function properly. Serum LH concentrations are elevated in the sense of counterregulation (hypergonadotropic hypogonadism). In secondary hypogonadism, LH secretion (and usually also FSH) from the hypophysis is impaired so that Leydig's cells are not stimulated, while in tertiary hypogonadism the hypothalamus is damaged. The clinical course in cases of reduced serum testosterone levels is determined essentially by the point in time when hypogonadism becomes manifest. Delayed puberty, eunuchoid stature, and underdeveloped secondary sex characteristics suggest prepubertal onset of hypogonadism.

Adult↗
PubMed1992

Clinical applications of gonadotropin-releasing hormones in reproductive disorders.

Gonadotropin-releasing hormone (GnRH) agonists show promise as new therapeutic agents with considerable potential for clinical applications in endocrinology, gynecology, pediatrics, and oncology. GnRH agonists are derived from GnRH. This article reviews the physiology and neuroendocrine effects of GnRH and discusses clinical applications of the native substance and its analogs.

Endocrine System Diseases↗
PubMed2005

[Complete androgen insensitivity syndrome in 16-year-old girl with female phenotype].

We present a case of a 16-year-old girl who attended Endocrinology Clinic in Kraków. Her main complains were amenorrhea and lack of pubic and axillary hair development. Breast development was normal. Based on those features, male karyotype (46, XY) as well as high levels of blood testosterone and lack of uterus on ultrasound examination allowed for establishing the diagnosis of complete androgen insensitivity syndrome. The authors emphasize the possibility of diagnosing severe disorders of sex differentiation, such as sex reversal, not earlier than in teenage patients with delayed puberty. In such cases the diagnosis can be established based on physical examination with evaluation of sexual development, basic blood hormonal tests and karyotype results. Reliable knowledge of male sex differentiation physiology is needed for their correct interpretation.

Adolescent↗
PubMed2005

[Partial gonadal dysgenesis in a 12-year-old girl--diagnostic and therapeutic difficulties].

The authors present a 12-year-old girl who was seen in the out-patient Endocrinology Clinic, University Children's Hospital of Cracow, with the preliminary diagnosis of androgen insensitivity syndrome, presenting with progressing virilisation, breast underdevelopment and dysmorphy. Pubarche was normal. Gynecological examination revealed ambiguous external genitalia. On ultrasound examination homo genic gonad-like structures without follicles were seen, but no uterus was present. Basic hormonal studies indicated hypogonadotropic hypogonadism. The child was diagnosed as partial gonadal dysgenesis 46, XY. A gonadectomy was performed due to the 30-40% risk of gonadoblastoma development characteristic for such cases, and estrogen substitution followed after the surgery. The authors stress the necessity of including partial gonadal dysgenesis and partial androgen insensitivity syndrome in the differential diagnosis of delayed puberty. In both the above mentioned syndromes the clinical features are similar but the management differs. The authors stress the importance of establishing the cause of the condition and further management prior to discharging the neonate. The ultimate sex must allow the patient to best fulfill his/her psychosocial role in society and reduce the psychological trauma.

Child↗
PubMed2005

[Complete gonadal dysgenesis 46, XY in a 16-year-old girl with a female phenotype--case report].

We present a case of a 16-year-old girl, who attended the Endocrinology Outpatient Clinic of the University Paediatric Hospital in Kraków, because of lack of breast development and primary amenorrhea. Pubic hair development was normal. Baseline hormonal blood tests indicated a primary gonadal lesion (hypergonadotropic hypogonadism). Ultrasonography examination revealed bilateral streak gonads in ovarian localisation. Uterus was present. The karyotype was male: 46, XY. Gonadectomy was performed due to risk of gonadoblastoma development in streak gonads. Based on the histology of the removed gonads the final diagnosis of complete gonadal dysgenesis 46, XY was established. After the gonadectomy hormonal replacement therapy was introduced. Authors emphasise the importance of considering in each case of delayed puberty in teenage girls the possibility of complete gonad dysgenesis 46, XY. The diagnosis can be established only on the support of a reliable knowledge of male sex differentiation physiology.

Adolescent↗