RESUMO
Three patients with male pseudohermaphroditism due to 17,20-desmolase deficiency were studied at a pubertal age. Patients 1 and 2 (first cousins, raised as males) had inter-sexual external genitalia, some spontaneous male pubertal development, some response of plasma testosterone to hCG, low plasma dehydroepiandrosterone, and pregnanetriolone (3 alpha, 17 alpha, 20 alpha-trihydroxypregnan-11-one) in urine. Patient 3 (unrelated, raised as a female) had female external genitalia, no spontaneous pubertal development, no response of plasma testosterone to hCG, normal plasma dehydroepiandrosterone, and no pregnanetriolone in urine. It is concluded that two types of 17,20-desmolase deficiency exist: one with an incomplete defect in both, the delta 4- and the delta 5-pathway (patients 1 and 2), and one with a complete defect in the delta 4-pathway only (patient 3).
Assuntos
Aldeído Liases/deficiência , Transtornos do Desenvolvimento Sexual/etiologia , Androstenodiona/sangue , Gonadotropina Coriônica , Desidroepiandrosterona/sangue , Transtornos do Desenvolvimento Sexual/metabolismo , Humanos , Masculino , Pregnanotriol/análogos & derivados , Pregnanotriol/urina , Esteroide 17-alfa-Hidroxilase , Testosterona/sangueRESUMO
Removal of a craniopharyngioma usually results in panhypopituitarism. Some children, however, grow normally or even excessively after extirpation of the tumor despite a proven lack of GH and have so far not been treated with hGH. We studied the effects of short (2-day) and long term (1-yr) administration of hGH on metabolism and growth in six patients receiving regular hormonal replacement therapy. During short term human (h) GH treatment, 15N retention was not significantly increased (mean +/- SEM, 115.4 +/- 9.6% of basal balance) and was not different from the control value. In contrast, 15N retention was 210.3 +/- 20.7% in children with GH deficiency from other causes. Long term administration of hGH (2 IU/m2.day, sc, for 12 months) did not influence growth velocity, but increased the calf circumference and decreased the body mass index and skinfold thickness in prepubertal patients. Insulin-like growth factor-I (IGF-I), IGF-binding protein-3 (IGFBP-3), and the 150-kilodalton IGFBP complex were decreased before and restored to normal during treatment. The reverse was observed for the 50-kilodalton IGFBP complex. Growth (velocity) in these patients did not correlate with any of the usual indicators of the growth status and remains unexplained. Although hGH did not affect growth, it had other beneficial effects and is recommended for these patients.
Assuntos
Craniofaringioma/tratamento farmacológico , Craniofaringioma/cirurgia , Hormônio do Crescimento/deficiência , Hormônio do Crescimento/uso terapêutico , Neoplasias Hipofisárias/tratamento farmacológico , Neoplasias Hipofisárias/cirurgia , Adolescente , Criança , Craniofaringioma/fisiopatologia , Glândulas Endócrinas/fisiopatologia , Feminino , Crescimento/efeitos dos fármacos , Humanos , Masculino , Nitrogênio/metabolismo , Neoplasias Hipofisárias/fisiopatologia , Fatores de TempoRESUMO
Forty patients with hypocalcemia and/or Albright's hereditary osteodystrophy were studied. Based on the estimation of serum calcium and parathyroid hormone (PTH) levels as well as the urinary cAMP response to infusions with parathyroid extract, it was possible to classify all of the patients studied as cases with idiopathic hypoparathyroidism (n = 6, low PTH, normal cAMP response), pseudohypoparathyroidism (PHP) type I (n = 18, high PTH, low cAMP response) and type II (n = 2, high PTH, normal cAMP response), as well as pseudopseudohypoparathyroidism (n = 14, normal PTH, normal cAMP response). In three cases studied at the age of 12, 17, and 23 yr, the signs of Albright's hereditary osteodystrophy were not observed. PTH levels were unusually high for a given serum calcium concentration in some patients with PHP, the increased PTH levels were, however, normalized during iv calcium infusions. In two young children with PHP, a gradual increase of serum PTH levels occurred despite persistent normocalcemia over a period of 3 yr. This suggests that factors other than hypocalcemia or frequent small unobservable falls of the serum calcium concentration, such as a deficient formation of 1,25-dihydroxyvitamin D3, secretion of an abnormal PTH, or an abnormal metabolism of the hormone, may contribute to the secondary hyperparathyroidism in PHP.
Assuntos
Cálcio/sangue , AMP Cíclico/sangue , Hipocalcemia/metabolismo , Hipoparatireoidismo/metabolismo , Glândulas Paratireoides/fisiologia , Hormônio Paratireóideo/sangue , Pseudo-Hipoparatireoidismo/metabolismo , Extratos de Tecidos , Adolescente , Adulto , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-IdadeRESUMO
This case report illustrates that the risk of thromboembolism in the treatment of tall girls with high dose oestrogens is not negligible.
Assuntos
Estatura/efeitos dos fármacos , Estrogênios/efeitos adversos , Tromboflebite/induzido quimicamente , Adolescente , Criança , Estrogênios/administração & dosagem , Estrogênios/uso terapêutico , Feminino , Humanos , Tromboflebite/terapiaRESUMO
Nuclear magnetic resonance imaging of the hypothalamohypophyseal tract allows the detection and identification of ectopic posterior pituitary lobe tissue by its characteristic high signal intensity. We found this anomaly in 2 boys with growth hormone insufficiency. Neurohypophyseal ectopy may be misdiagnosed as subhypothalamic tumor and such patients risk to be subjected to unnecessary neurosurgery.
Assuntos
Coristoma/patologia , Hormônio do Crescimento/deficiência , Hipopituitarismo/patologia , Neuro-Hipófise/patologia , Criança , Humanos , Imageamento por Ressonância Magnética , MasculinoRESUMO
In an infant with pseudohypoaldosteronism type I increased urinary excretion of PGE2 (1.32 ng/mg creatinine; normal mean +/- SE: 0.50 +/- 0.10) and PGF2 alpha (6.15 ng/mg creatinine; normal mean +/- SE: 2.93 +/- 0.91) was found. Prostaglandin excretion as well as the typical hyperkalemia, hyperreninemia and hyperaldosteronism normalized with adequate dietary salt supplementation. An abnormally high excretion of the renal prostaglandins was again present at age 4.4 years when the child was thriving although additional salt was withheld. These abnormalities are considered to be secondary to this condition's basic defect which remains to be elucidated.
Assuntos
Aldosterona/metabolismo , Prostaglandinas E/urina , Prostaglandinas F/urina , Aldosterona/sangue , Aldosterona/urina , Dinoprosta , Dinoprostona , Humanos , Hiperpotassemia , Hiponatremia , Lactente , Masculino , Renina/sangue , Cloreto de Sódio/uso terapêuticoRESUMO
An exonic single nucleotide substitution in the human androgen receptor gene (hAR) could be detected in an Italian family with two children affected by complete androgen insensitivity syndrome (CAIS), also called testicular feminization. This mutation leads to a guanine to adenine transition in exon 5, changing the sense of the codon from methionine (ATG) to valine (GTG). As this mutation abolishes a NcoI restriction site, a rapid test for the mutation can be performed by digestion of the polymerase chain reaction products with this enzyme. Previous results of indirect gene diagnosis in this family could be confirmed by this method.
Assuntos
Síndrome de Resistência a Andrógenos/genética , Mutação Puntual , Receptores Androgênicos/genética , Sequência de Aminoácidos , Sequência de Bases , Sítios de Ligação/genética , DNA , Análise Mutacional de DNA , Feminino , Humanos , Lactente , Masculino , Dados de Sequência Molecular , Linhagem , Reação em Cadeia da Polimerase , Receptores Androgênicos/metabolismo , Esteroides/metabolismoRESUMO
In a girl aged 5 years with a virilizing adrenal adenoma the urinary and plasma steroid findings suggested the diagnosis of congenital adrenal hyperplasia due to P450c11 (11 beta-hydroxylase) deficiency. After removal of the tumour clinical signs receded and the hormonal values normalized. RNA analysis of the tumour tissue revealed low amounts of P450c11 mRNA which indicates that P450c11 deficiency of the adenoma caused the steroid abnormalities in this girl.
Assuntos
Adenoma/enzimologia , Neoplasias das Glândulas Suprarrenais/enzimologia , Hiperplasia Suprarrenal Congênita , Hiperplasia Suprarrenal Congênita/diagnóstico , Adenoma/diagnóstico , Neoplasias das Glândulas Suprarrenais/diagnóstico , Hiperplasia Suprarrenal Congênita/metabolismo , Pré-Escolar , Feminino , Humanos , Esteroides/metabolismoRESUMO
In two adult patients with congenital poikiloderma (Rothmund-Thomson syndrome) the following endocrine abnormalities were found: Patient 1, female, with short stature had primary amenorrhoea and did not develop secondary sexual characteristics. Despite lacking an oestrogen effect on the vaginal smear and the low urinary oestrogen excretion, basal LH and FSH and their response to LH-RH were normal. At age 36 a parathyroid adenoma was diagnosed because of increased immunoreactive plasma parathyroid hormone and persistent hypercalcaemia. After removal of the tumour the patient remained normocalcaemic. The result of growth hormone response to insulin in the intermediate range was suggestive of partial deficiency. In patient 2, male, hypergonadotrophic hypogonadism with small testes and high basal LH and FSH levels as well as increased LH and FSH response to LH-RH were found. Plasma testosterone was normal. Endocrine abnormalities in previously published cases are summarized.
Assuntos
Adenoma/etiologia , Hipogonadismo/etiologia , Neoplasias das Paratireoides/etiologia , Síndrome de Rothmund-Thomson/complicações , Dermatopatias/complicações , Adenoma/diagnóstico , Adolescente , Adulto , Amenorreia/etiologia , Estrogênios/urina , Feminino , Hormônio Foliculoestimulante/sangue , Hormônio do Crescimento/sangue , Humanos , Hipercalcemia/etiologia , Insulina , Hormônio Luteinizante/sangue , Masculino , Hormônio Paratireóideo/sangue , Neoplasias das Paratireoides/diagnóstico , Manifestações Cutâneas , Testosterona/sangueRESUMO
A 13 1/2 year-old girl with short stature and very few Turner stigmata revealed 45,X/46,XX mosaicism with 90%-100% 46,XX cells in three sequential blood lymphocyte cultures. Molecular investigation of the parental origin of her X chromosomes revealed homozygosity for paternal X markers and an absence of maternal markers. Luteinizing hormone response to growth hormone releasing hormone was increased. Impaired gonadal function and shortness of stature in this case could be a result of the mild mosaicism with a 45,X cell line and/or is a consequence of the paternal-only origin of her X chromosomes.
Assuntos
Pai , Transtornos do Crescimento/genética , Mosaicismo , Síndrome de Turner/genética , Cromossomo X , Adolescente , Feminino , Humanos , LinhagemRESUMO
22 Boys with pubertal gynaecomastia (age 15.9 +/- 1.9 years) were treated with testolactone (450 mg daily by mouth) for 2 to 6 months without side-effects. The mean breast gland diameter regressed from 4.4 to 3.3, 3.2 cm, and 1.7 cm at 2, 4, and 6 months, while pubic hair and testicular volume progressed normally. Plasma androstenedione increased from 5.4 to 73.1 nmol/l. Testosterone, DHEA, and oestrone increased less, and oestradiol remained unchanged. Androgen/oestrogen ratios increased (most marked change: androstenedione/oestrone from 15 to 140). LH (basal and maximum after LHRH) did not change, but FSH increased somewhat (basal 133 to 173, maximum 225 to 269 micrograms/l). Prolactin remained unchanged. It is concluded that testolactone, an inhibitor of steroid aromatization, is an effective and safe medical treatment for pubertal gynaecomastia.
Assuntos
Ginecomastia/tratamento farmacológico , Puberdade/fisiologia , Testolactona/uso terapêutico , Adolescente , Androgênios/sangue , Estrogênios/sangue , Hormônio Liberador de Gonadotropina , Gonadotropinas Hipofisárias/metabolismo , Ginecomastia/patologia , Ginecomastia/fisiopatologia , Humanos , Masculino , Testículo/patologiaRESUMO
The correlations for stature between parents and grown-up offspring in 90 normal males and 116 normal females have been compared with similar correlations obtained in 27 adult males with Klinefelter's syndrome, 33 adult females with Turner's syndrome and in 75 adult patients with Down's syndrome. There was close similarity between the findings in the patients with sex chromosomal disorders and in normal subjects, a roughly constant amount of height being gained or lost through the chromosomal abnormalities. However the genetic pattern was lost in patients with Down's syndrome. In males with idiopathic precocious puberty and in untreated females with congenital adrenal hyperplasia, the parent-offspring correlations were not normal. In females with idiopathic precocious puberty they approximated normal values. The first two are pathological conditions of varying severity, whilst the majority of girls diagnosed as suffering from precocious puberty represent the extreme variant of normal.
Assuntos
Estatura , Síndrome de Klinefelter/genética , Pais , Síndrome de Turner/genética , Hiperfunção Adrenocortical/genética , Adulto , Criança , Síndrome de Down/genética , Feminino , Humanos , Estudos Longitudinais , Masculino , Puberdade Precoce/genéticaRESUMO
Four boys with Fanconi's anaemia and growth hormone (GH) deficiency are reported. Case 1 had isolated GH deficiency and responded to HGH and to oxandrolone treatment. Case 2, his brother, had milder haematological and dysmorphic manifestations and maintained a low-normal growth rate without treatment in spite of laboratory evidence of GH deficiency. Case 3 had multiple hypothalamopituitary defects, including deficiencies of GH, ACTH, and gonadotrophins. Case 4 had isolated GH deficiency and responded moderately well to HGH treatment. 3 of the 4 patients had bilateral cryptorchidism, 2 with increased plasma gonadotrophins, indicating primary testicular failure. We conclude that GH deficiency, isolated or combined with other hypothalamopituitary defects, and primary testicular failure with cryptorchidism are frequent but not constant features of Fanconi's anaemia.
Assuntos
Anemia Aplástica/complicações , Anemia de Fanconi/complicações , Hormônio do Crescimento/deficiência , Criança , Pré-Escolar , Criptorquidismo/etiologia , Nanismo/etiologia , Hormônio do Crescimento/uso terapêutico , Humanos , Lactente , Masculino , Oxandrolona/uso terapêuticoRESUMO
The patterns of length alterations in the hand bones in cases of pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and acrodysostosis were evaluated. The length of each of the hand bones was measured and compared to appropriate means for age and sex. The pattern profiles thus generated showed that those for PHP and PPHP are almost identical, and are similar to that seen in acrodysostosis, except for the much smaller size of the bones seen in the latter condition. PHP and PPHP are probably differend manifestations of the same entity, and acrodysostosis may also be related to them. Brachydactyly E is indistinguishable radiologically from the PHP-PPHP syndrome.
Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Cromossomos Humanos 16-18 , Dedos/anormalidades , Pseudo-Hipoparatireoidismo/diagnóstico por imagem , Pseudopseudo-Hipoparatireoidismo/diagnóstico por imagem , Síndrome de Turner/diagnóstico por imagem , Anormalidades Múltiplas/diagnóstico por imagem , Adolescente , Adulto , Desenvolvimento Ósseo , Osso e Ossos/diagnóstico por imagem , Criança , Cromossomos Humanos 13-15 , Diagnóstico Diferencial , Feminino , Cabelo/crescimento & desenvolvimento , Mãos/diagnóstico por imagem , Deformidades Congênitas da Mão , Humanos , Masculino , Deformidades Adquiridas Nasais , Radiografia , SíndromeRESUMO
Two cases of isolated glucocorticoid insufficiency or congenital adrenocortical unresponsiveness to ACTH-a variant of adrenocortical failure without mineralocorticoid insufficiency-are presented. Familial incidence was present only in case 1 since two of the siblings died after convulsions, possible related to hypoglycemia. The pathology specimens of one sibling were available for review showing complete lack of the fascicular zone and degenerative changes in the adrenals and evidence of increased ACTH secretion in the pituitary. In the patients who were given substitution therapy with hydrocortisone, studies of plasma renin and aldosterone revealed impairment of plasma aldosterone response to salt restriction, orthostatism and furosemide-induced diuresis combined with postural change. We conclude that in some cases of isolated glucocorticoid insufficiency, impairment of mineralocorticoid function may gradually develop, which is in contrast to the assumption of a congenital defect in the action of ACTH.
Assuntos
Doenças do Córtex Suprarrenal/metabolismo , Doenças das Glândulas Suprarrenais/metabolismo , Glucocorticoides/deficiência , Doenças do Córtex Suprarrenal/genética , Doenças do Córtex Suprarrenal/terapia , Glândulas Suprarrenais/patologia , Aldosterona/sangue , Criança , Pré-Escolar , Dieta Hipossódica , Diurese , Feminino , Furosemida/uso terapêutico , Humanos , Hidrocortisona/uso terapêutico , Masculino , Postura , Renina/sangue , Sódio/metabolismoRESUMO
Puberty developed in a boy before age 12 years despite a marked delay in skeletal development. A large suprasellar arachnoidal cyst was found. Such cysts may be a cause of precocious puberty.
Assuntos
Aracnoide-Máter , Craniofaringioma/complicações , Neoplasias Hipofisárias/complicações , Puberdade Precoce/etiologia , Criança , Craniofaringioma/diagnóstico por imagem , Humanos , Masculino , Neoplasias Hipofisárias/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
In a follow-up study of 48 young men who had been surgically treated for cryptorchidism before puberty testicular function was assessed by examining the genitalia, testicular volume, secondary sex characteristics, semen, plasma luteinising hormone (LH) and follicle-stimulating hormone (FSH) concentrations after luteinising hormone-releasing hormone stimulation, and plasma testosterone concentrations. Clinical androgen effects were normal. The mean testicular volume of both testes was in the low normal range in those who had had unilateral cryptorchidism and below normal in those who had had bilateral cryptorchidism. Of 37 patients whose sperm counts were recorded (14 bilateral) six showed azoospermia (all bilateral), five had severe oligospermia (four bilateral), and 10 had moderate oligospermia (one bilateral). In nearly all those who had had bilateral cryptorchidism and most of those who had had unilateral cryptorchidism plasma gonadotrophin levels were increased. Four cases of possible partial LH deficiency were identified. Plasma testosterone concentrations were normal in all except two patients.
Assuntos
Criptorquidismo/complicações , Testículo/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Criptorquidismo/cirurgia , Hormônio Foliculoestimulante/sangue , Seguimentos , Humanos , Hormônio Luteinizante/sangue , Masculino , Oligospermia/etiologia , Caracteres Sexuais , Testículo/patologia , TestosteronaRESUMO
The diagnosis of 17-ketoreductase deficiency is established in most patients at or after puberty when basal plasma androstenedione levels are high; data on prepubertal children are limited. Two infants with external female genitalia presented in infancy with inguinal herniae and palpable gonads. Both had a 46,XY karyotype, a short vagina, absent uterus, and a gonadal biopsy showing testicular tissue. The value of an hCG stimulation test in making the diagnosis of 17-ketoreductase deficiency was confirmed by a minimal plasma testosterone but marked androstenedione response. Androgen receptor deficiency based on studies in genital skin fibroblasts was demonstrated in one of the cases. We speculate that this is possibly the result of failed induction of receptors secondary to androgen deficiency. Though 'tomboyish' in behaviour, both children are reared as girls.
Assuntos
Transtornos do Desenvolvimento Sexual/enzimologia , 17-Hidroxiesteroide Desidrogenases/deficiência , Androstenodiona/sangue , Gonadotropina Coriônica , Humanos , Recém-Nascido , Cariotipagem , Masculino , Orquiectomia , Receptores Androgênicos/deficiência , Testosterona/sangueRESUMO
OBJECTIVE: This study aimed at the evaluation of the subjective experience and long-term behavioral and psychological effects of precocious puberty (PP). METHODS: 19 female patients who had been treated with GnRH agonists participated in a semistructured interview and completed two standardized checklists. Their parents completed the Child Behavior Checklist (CBCL). RESULTS: The CBCL yielded significantly elevated Internalizing and Total Behavior Problem scores. An elevated risk was found for patients with short adult stature and a relatively late onset of PP. The latter tended to neuroticism, to accentuation of their physical appearance, and felt significantly more insecure than age-related non-PP girls. CONCLUSION: Our findings suggest that PP can lead to specific behavioral problems, and that patients with a risk factor may need psychosocial support.
Assuntos
Adaptação Psicológica , Hormônio Liberador de Gonadotropina/agonistas , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/psicologia , Adolescente , Adulto , Estatura , Feminino , Previsões , Humanos , Transtornos Mentais/etiologia , Transtornos Neuróticos/etiologia , Puberdade Precoce/patologiaRESUMO
The syndrome of type A insulin resistance is encountered in young women and is characterized by glucose intolerance or frank diabetes mellitus, endogenous hyperinsulinism, insensitivity to insulin administration, acanthosis nigricans and virilization. The insulin resistance is due to reduced cellular insulin binding because of a lack of or defective binding sites and/or because the interaction with the tyrosine kinase of the beta-subunit is hindered. This study was undertaken to find out whether hyperglycaemia in these patients may be influenced by the administration of recombinant human insulin-like growth factor I which exerts insulin-like effects through the insulin receptor as well as the type 1 insulin-like growth factor I receptor. Recombinant human insulin-like growth factor I was intravenously administered in two subsequent doses of 100 micrograms/kg body weight to three women with type A insulin resistance. An immediate but slow fall of blood glucose was observed. The glucose disappearance rate was 28.0 mumol/min, i.e. considerably lower than that seen in healthy subjects. The markedly elevated insulin and C-peptide levels fell in a parallel manner to blood glucose but not to normal levels. The results show that recombinant human insulin-like growth factor I, presumably by reacting with the type 1 insulin-like growth factor receptor, can normalize serum glucose levels in patients with severe insulin resistance at least for several hours. We suggest that the potential or recombinant human insulin-like growth factor I to control hyperglycaemia in type A insulin resistant patients should be explored in more depth.