[Gynecology in children and adolescents].
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Adolescent↗
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Results for “Puberty, Delayed”
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Plasma androgens and growth or puberty disorders.
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Adolescent↗
Mediastinal lymph node hyperplasia, hypergammaglobulinemia, and anemia.
An adolescent girl with retarded development, delayed puberty, and hypergammaglobulinemia had anemia unresponsive to iron therapy that was cured when a mass of mediastinal giant lymph node hyperplasia was removed surgically. Rapid growth and development of secondary sexual characteristics occurred after operation. Follow-up studies made 20 years after operation showed compensated increased erythrocyte hemolysis and increased serum IgM. When mediastinal giant lymph node hyperplasia with abundant plasma cells is seen in childhood, there may be refractory anemia and immune disturbances. Similar giant lymph node hyperplasia without plasma cells may be found in an asymptomatic child or adult. The pertinent features of the few symptomatic cases reported are reviewed.
Adolescent↗
Various clinical aspects of DIDMOAD (Wolfram) syndrome.
The association of juvenile diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA) and sensorineural deafness (D) is known as DIDMOAD or Wolfram syndrome. Aside from these four cardinal features, a wide variety of abnormalities of the nervous system, urinary tract and endocrine glands have been described in this syndrome. In this report, the clinical features of six patients with DIDMOAD syndrome are presented. All six patients had DM. Five of the six patients had DI, five OA and five displayed abnormal audiogram findings. In addition, two had goiter, two delayed puberty, one seizure and one mental retardation with depression attacks. Urinary tract dilatation was recorded in five patients. Four patients developed typical complications of DM. One of them had overt nephropathy and arthropathy despite the short duration of DM. In addition, this patient had diabetic retinopathy, which is considered to be rare in this syndrome.
Adolescent↗
Pulsatile gonadotropin output and response to luteinizing hormone releasing hormone (LRH) in primary amenorrhea.
The pulsatile gonadotropin output and resonse to luteinizing hormone releasing hormone (LRH) administration was evaluated in 23 patients with primary amenorrhea. Pulsatile LH output and associated FSH pulses were readily observed in patients with hypergonadotropism. Responses in patients with congenital adrenal hyperplasia varied with the adequacy of the prior therapeutic management, which in turn apparently determined the maturational status of the individual. A patient with Kallmann's syndrome had both FSH and LH pulsatile activity. Patients thought to have simple delayed puberty had normal baseline gonadotropin values, and regular LH pulsations, but no correlation of FSH and LH pulsatile activity. Correlated analysis of LRH response and pulsatile gonadotropin activity may allow differentiation of individuals showing a normal progression of maturation from those with maturational dysfunction.
Adolescent↗
Assessment of ophthalmologic, endocrinologic and genetic findings in the Bardet-Biedl syndrome.
There is a great degree of heterogeneity of ophthalmologic and endocrinologic manifestations among patients with the Bardet-Biedl syndrome. The similarity of the atypical forms of retinitis pigmentosa and cone-rod degeneration indicates that definitive functional and electrophysical retinal work-ups should be performed on young patients with this syndrome. Since many cases of delayed puberty occur, the diagnosis of hypogonadism should be deferred until age 15. Segregation analysis on a large study of Bardet-Biedl syndrome in Switzerland differs from that expected with simple autosomal recessive inheritance. Excess affected males and deficient consanguinity are also documented. The occurrence of other family members with incomplete forms of the syndrome is noted in many reports in the literature. The authors propose that consideration be given to the hypothesis that the Bardet-Biedl syndrome may be transmitted by polygenic inheritance, since this would be compatible with features of the syndrome mentioned above.
Adolescent↗
[Endocrine evaluation and evolution of intrasellar craniopharyngioma (CPIS): study of 8 cases].
BACKGROUND: Craniopharyngiomas generally develop either in the suprasellar region or in both suprasellar and intrasellar regions. Purely intrasellar craniopharyngiomas are rare in children; they have special clinical and radiological features and pose specific therapeutic problems. POPULATION AND METHODS: Eight patients (five girls and three boys), aged 7 to 17 years, were admitted from 1976 to 1992 with a diagnosis of intrasellar craniopharyngioma without extrasellar development. Search for endocrine deficiencies was performed in all these patients as well as radiological investigation (skull X-rays, CT scan and MRI). RESULTS: Persistent delayed growth was the main complaint in seven out of the eight patients. Headache was seen in three patients. The tumor was fortuitously discovered after cranial traumatism in one. Initial endocrine investigations showed growth hormone deficiency in all patients; deficiency in thyrotropin was seen in five, in adenocorticotropin in six. Three patients had moderately increased levels of blood prolactin and four had delayed puberty with gonadotropin deficiency. Only one patient presented with diabetes insipidus. X-rays showed enlarged sella turcica in seven of the eight patients with calcifications in three and a cystic lesion in five. Two patients were operated on because of a doubtful diagnosis: their condition is stable 1.5 and 12 year later, respectively. The tumor volume remained stable with a follow-up of 1.5-9 years in five other patients; its volume gradualled increased in another patient requiring surgical removal 18 months after diagnosis. Antehypophysar deficiency generally increased in all patients, operated on or not, and five patients out of six have gonadotropin deficiency. CONCLUSIONS: These intrasellar craniopharyngiomas remain generally stable so that the greatest care must be taken in proposing surgical treatment.
Adolescent↗
[Male osteoporosis].
Careful examination as well as biochemical and hormonal investigations should be performed in men suffering from vertebral crush fractures, in order to detect a destructive skeletal process (multiple myeloma, bone metastatic lesions, lympho and myeloproliferative disorders), a mineralization defect (osteomalacia) or a secondary osteoporosis: primary hyperparathyroidism, hypogonadism, hyperthyroidism, renal hypercalciuria, alcoholism and tobacco smoking. The diagnosis of idiopathic osteoporosis should be made only after these causes have been excluded; the pathogenesis of the disease is unclear but risk factors have been identified: family history of osteoporosis, low dietary calcium intake, delayed puberty, ethanol use, tobacco smoking, inactive lifestyle and lean body build. Correction of risk factors, calcium supplementation, regular program of weight bearing physical activity, in some instances correction of testosterone deficiency may be of benefit to reduce bone loss. Severe osteopenia or osteoporosis may require sodium fluoride therapy.
Absorptiometry, Photon↗
Neurotransmitter control of growth hormone secretion in children after cranial radiation therapy.
Cranial radiation for childhood cancer can cause growth hormone deficiency (GHD), usually due to hypothalamic rather than pituitary dysfunction. To investigate whether this hypothalamic dysfunction is secondary to altered neurotransmitter input from other brain centers, we used neurotransmitter-excitatory substances to study the GH secretory response in 17 children who had received 12 to 60 Grey (Gy) to the cranium and 40 short children with normal endocrine function. As expected, the irradiated children had decreased mean GH secretion in response to insulin-induced hypoglycemia and arginine infusion, and decreased mean 24 hour GH concentrations, compared to the control group. In contrast, the two groups had similar GH secretory responses to GHRH stimulation and somatostatin suppression. Assessment of neurotransmitter pathways in the irradiated children revealed significantly lower mean peak GH concentrations in response to 5 of the 6 substances tested compared to control children: alpha-adrenergic stimulation (clonidine), beta-adrenergic blockade (propranolol), cholinergic stimulation, dopaminergic stimulation (L-dopa), and GABA-ergic stimulation (valproic acid). Results of serotonergic stimulation (L-tryptophan) were not statistically significant. Eleven patients who had abnormal GH secretion underwent 4 or more tests with neurotransmitter-stimulatory agents; 3 patients had peak GH concentrations of < 2.5 micrograms/l to all tests, whereas 4 patients had a peak GH concentration of > or = 7 micrograms/l to one or more tests but < 5 micrograms/l to one or more other tests. These observations suggest that radiation damage may sometimes spare growth hormone-releasing hormone (GHRH) and somatostatin secretion while affecting neurotransmitter pathways. We postulate that the hierarchy of sensitivity to radiation damage may be hypothalamic and extra-hypothalamic neurotransmitters > hypothalamic GHRH and/or somatostatin secretion > pituitary GH secretion.
Adolescent↗
Progressive optic atrophy associated with juvenile diabetes mellitus: report of two cases among first cousins.
Two first cousins both suffering from insulin dependent diabetes mellitus since early childhood developed progressive optic atrophy from the age of 5 and 9 years respectively. They had similar ophthamological features which include optic atrophy with cupping, paracentral scotomata, and total achromatopsia. One patient also had stunted growth, delayed puberty and psychiatric disorder. Neither had diabetes insipidus and deafness. It is suggested that they may be a variant of DIDMOAD (Diabetes Insipidus, Juvenile Diabetes Mellitus, Optic Atrophy, Deafness).
Adolescent↗
Late effects in children after bone marrow transplantation: a review.
Since the number of children receiving a bone marrow transplantation (BMT) and becoming long-term survivors continues to increase, more attention has to be paid to detect long-term side effects in these unique patients. Follow-up studies to timely identify these untoward sequelae are a matter of particular concern for pediatricians due to the longer life expectancy of children cured by BMT. The more frequently recognized sequelae affecting lung, eyes, brain and the endocrine system have been analyzed in this review. The majority of long-term side effects could be related to the conditioning regimens employed to prepare children before marrow transplantation and radiotherapy has been indicated as the most important agent determining deleterious toxicities. Most children receiving BMT present a decreased growth velocity and this growth impairment is especially observed in patients receiving total body irradiation (TBI) and prophylactic cranial irradiation prior to marrow transplant. Growth hormone deficiency could be demonstrated in the majority of patients with a reduced growth rate, even though an impairment of liver somatomedin production or a direct radiation-induced skeletal dysplasia could not be excluded. Overt and compensated hypothyroidism have been reported after TBI and patients given single dose radiotherapy are at greater risk with an overall incidence of thyroid function abnormalities approaching 30-40%. Delayed puberty development was reported in boys and girls after a TBI-containing conditioning regimen, whereas patients given BMT for severe aplastic anaemia presented a normal puberty. The absence of pubertal growth spurt contributes to the growth impairment of prepubertal children. In post-pubertal patients amenorrhea, azoospermia and gonadal failure can be observed after radiotherapy and several patients can require hormonal substitutive therapy. Skin and mucosal abnormalities referred to teguments involvement by chronic graft-versus-host disease (GVHD). Moreover, alopecia or abnormal pigmentation of the skin are observed in patients given busulfan as part of their myeloablative therapy. Cataracts are a well recognized complication of children receiving ionizing radiations and chronic steroid therapy. Again, posterior subcapsular cataracts occur more frequently in patients given TB1 as single exposure. Decreased lacrimal gland function, with impairment of tear production is another late effect of irradiation to the eye. Lung function abnormalities are not rare after transplant and may cause late mortality and morbidity.(ABSTRACT TRUNCATED AT 400 WORDS)
Bone Marrow Transplantation↗
Hypothalamo-pituitary gonadal axis in chronic renal failure.
Chronic renal failure causes extensive neuroendocrine disturbance, including marked hypothalamo-pituitary dysfunction which is reversed by renal transplantation but not dialysis. Gonadal dysfunction in uremia is manifest as delayed puberty in adolescents; as testicular atrophy, hypospermatogenesis, infertility, impotence in men; and as anovulation, infertility, and menstrual disturbance in women. Gonadal steroidogenesis and gametogenesis are impaired and gonadotropin levels are increased. In addition to evidence of defects in pituitary and gonadal function, increasing evidence indicates the importance of alterations in hypothalamic regulation of pituitary-gonadal function in the pathogenesis of uremic hypogonadism. Experimental uremia induced by subtotal nephrectomy in mature rats causes gonadal dysfunction, which is principally due to aberrant neuroendocrine regulation of GnRH secretion involving inhibition of GnRH secretion, hypersensitivity to negative testicular feedback, and resistance to naloxone, a triad of features termed ontogenic regression.
Female↗
Molecular biology in reproductive endocrinology.
Through the study of naturally occurring mutations in humans, the creation of mutations by site-directed mutagenesis, and the production of transgenic knockout mice, further understanding of molecular reproductive endocrinology had been achieved. Mutations in the aromatase gene in females have confirmed that its deficiency results in a previously unrecognized form of sexual ambiguity with a 46,XX karyotype, and delayed puberty with multicystic ovaries. It has long been known that estrogen is necessary for skeletal growth and epiphyseal closure in the female, but aromatase and estrogen receptor gene mutations in men have demonstrated for the first time, that estrogen is important for epiphyseal closure in the male. Mutations in the steroidogenic acute regulatory protein have been recently described that demonstrate the cause for lipoid congenital adrenal hyperplasia, a disorder characterized by the complete lack of steroid production. New gene mutations in gonadotropin beta-subunits, pituitary hormones, G-protein coupled receptors, G-proteins, steroid enzymes and their receptors have also been characterized recently. Site-directed mutagenesis experiments and transgenic knockout mice have been increasingly used to study the effects of normal endocrine function. Normal functions of steroid receptor genes (steroidogenic factor-1, estrogen receptor, progesterone receptor) the glycoprotein alpha-subunit, luteinizing hormone beta, and proto-oncogenes such as RET have been better characterized by creating knockout models. Molecular biology techniques permit these types of studies which may be difficult, if not impossible, to perform otherwise in physiologic settings.
Adrenal Cortex Hormones↗
Systems of life. Abnormalities of puberty.
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Adolescent↗
[The histophysiological characteristics of ovarian development with an altered level of thymic peptides at infancy in mice].
Thymic peptides effect on the female gonad development was studied: consequences of these substances dysbalance in infancy (T-activine administration of 0.1 microgram/g of body weight in dose since 8 to 21 postnatal day) was analysed. Morphofunctional diagnostics of the ovarian state is based on the spontaneous organism reaction to the drug administration (to 21-days-old animals) and on the distant consequences of its activity (in 1-, 2-, 3-months female animals). Thymic peptides dysbalance in infancy promotes only transitory disorders of the ovarian histophysiology, expressing in transitory inhibition of the follicle genesis with the simultaneous atretic process activation, which results in puberty delay with the following complete restoration of reproductive function. Taking into account that in the early neonatal period gonad reacts to T-activine administration with the development of strong ovarian pathology, the results obtain allow to conclude that the reactivity to thymic peptides content oscillations reduces so as the significance of the factors cited in the ovarian morphogenesis regulation in proportion with the animals' maturity.
Adjuvants, Immunologic↗
Aromatase expression in health and disease.
Family 19 of the P450 superfamily is responsible for the conversion of C19 androgenic steroids to the corresponding estrogens, a reaction known as aromatization, since it involves conversion of the delta 4-3-one A-ring of the androgens to the corresponding phenolic A-ring characteristic of estrogens. Its members occur throughout the entire vertebrate phylum. The reaction mechanism of aromatase is very interesting from a chemical point of view and has been studied extensively; however, a detailed examination of structure-function relationships has not been possible due to lack of a crystal structure. Recent attempts to model the three-dimensional structure of aromatase have permitted a model that accounts for the reaction mechanism and predicts the location of aromatase inhibitors. The gene encoding human aromatase has been cloned and characterized and shown to be unusual compared to genes encoding other P450 enzymes, since there are a number of untranslated first exons that occur in aromatase transcripts in a tissue-specific fashion, due to differential splicing as a consequence of the use of tissue-specific promoters. Thus, expression in ovary utilizes a proximal promoter that is regulated primarily by cAMP. On the other hand, expression in placenta utilizes a distal promoter that is located at least 40 kb upstream of the start of transcription and that is regulated by retinoids. Other promoters are employed in brain and adipose tissue. In the latter case, class I cytokines such as IL-6 and IL-11 as well as TNF alpha are important regulatory factors. PGE2 is also an important regulator of aromatase expression in adipose mesenchymal cells via cAMP and PGE2 appears to be a major factor produced by breast tumors that stimulates estrogen biosynthesis in local mesenchymal sites. In all of the splicing events involved in the use of these various promoters, a common 3'-splice junction is employed that is located upstream of the start of translation; thus, the coding regions of the transcripts- and hence the protein-are identical regardless of the tissue site of expression; what differ in a tissue-specific fashion are the 5'-ends of the transcripts. This pattern of expression has great significance both from a phylogenetic and ontogenetic standpoint as well as for the physiology and pathophysiology of estrogen formation. Recently, a number of mutations of the aromatase gene have been described, which give rise to complete estrogen deficiency. In females this results in virilization in utero and primary amenorrhea with hypergonadotropic hypogonadism at the time of puberty. In men the most striking feature is continued linear bone growth beyond the time of puberty, delayed bone age, and failure of epiphyseal closure, thus indicating an important role of estrogens in bone metabolism in men. In both sexes the symptoms can be alleviated by estrogen administration.
Amino Acid Sequence↗
Association of terminal chromosome 1 deletion with sertoli cell-only syndrome.
We report on del(1)(q44), developmental delay, cryptorchidism, and seizure disorder in a 19-year-old man. Endocrinologic evaluation showed delayed puberty and elevated gonadotropins. Testicular biopsy was consistent with Sertoli cell-only syndrome. The case illustrates a previously an unreported manifestation in males with del(1)(q44), and suggests a link between the development of germinal epithelium and genes in the 1q44 area.
Adult↗
Growth and growth hormone responses to oxandrolone in boys with constitutional delay of growth and puberty (CDGP).
Thirteen boys with constitutional delay in growth and/or development aged 7.6 to 16 years received 2.5 mg/day of oxandrolone for 3 months. Their growth response on treatment and in the subsequent 3 months was compared to that of 14 age-matched untreated controls. Growth rates were analysed in groups arbitrarily defined by testicular volume at entry (less than 4 ml prepubertal, greater than 4 ml pubertal). Growth velocities increased on oxandrolone (prepubertal, mean 4.4 to 7.5 cm/year, P = 0.05: pubertal, mean 4.7 to 8 cm/year, P less than 0.05). Over the next 3 months, the pubertal boys grew at 9.3 cm/year, while the prepubertal group decelerated to 6.2 cm/year. Both control groups showed no significant change in velocity over 6 months. GH responses to arginine and GRF, and to sleep in prepubertal boys, were unchanged throughout the study. However, in pubertal boys the mean GH levels ('area under the curve') during sleep at 3 and 6 months, had increased over baseline values, associated with a significant increase at 6 months in basal somatomedin-C (140 to 214 ng/ml, P less than 0.05). Oxandrolone does not alter the GH status of prepubertal boys, and thus probably promotes growth by a direct action at the growth plate. In contrast, the persistent growth acceleration of pubertal boys may be associated with increased GH and somatomedin-C levels: in this group, oxandrolone has proved a useful stimulus to growth.
Adolescent↗