RESUMEN
Micropenis is commonly due to fetal testosterone deficiency. The clinical management of this form of micropenis has been contentious, with disagreement about the capacity of testosterone treatment to induce a functionally adequate adult penis. As a consequence, some clinicians recommend sex reversal of affected male infants. We studied 8 male subjects with micropenis secondary to congenital pituitary gonadotropin deficiency from infancy or childhood to maturity (ages 18 to 27 years). Four patients were treated with testosterone before 2 years of age (group I) and four between age 6 and 13 years (group II). At presentation, the mean penile length in group I was 1.1 cm (-4 SD; range, 0.5 to 1.5 cm) and in group II it was 2.7 cm (-3.4 SD; range, 1.5 to 3.5 cm). All patients received one or more courses of 3 intramuscular injections of testosterone enanthate (25 or 50 mg) at 4-week intervals in infancy or childhood. At the age of puberty the dose was gradually increased to 200 mg monthly and later to an adult replacement regimen. As adults, both group I and II had attained a mean final penile length of 10.3 cm 2.7 cm with a range of 8 to 14 cm (mean adult stretched penile length for Caucasians is 12.4 2.7 cm). Six of 8 men were sexually active, and all reported normal male gender identity and psychosocial behavior. We conclude that 1 or 2 short courses of testosterone therapy in infancy and childhood augment penile size into the normal range for age in boys with micropenis secondary to fetal testosterone deficiency; replacement therapy at the age of puberty results in an adult size penis within 2 SD of the mean. We found no clinical, psychologic, or physiologic indications to support conversion of affected male infants to girls. Further, the results of this study do not support the notion, derived from data in the rat, that testosterone treatment in infancy or childhood impairs penile growth in adolescence and compromises adult penile length.
Asunto(s)
Identidad de Género , Hipogonadismo/congénito , Hipogonadismo/terapia , Pene/anomalías , Sexualidad , Testosterona/uso terapéutico , Adolescente , Adulto , Niño , Preescolar , Crecimiento , Humanos , Lactante , Recién Nacido , Estudios Longitudinales , Masculino , Pene/crecimiento & desarrolloRESUMEN
Analysis of the clinical findings and growth in 20 boys with isolated gonadotropin deficiency revealed a heterogeneous group of physical abnormalities. Ten of these patients were hyposmic or anosmic (Kallmann syndrome). Abnormalities found in our patients included undescended testes, gynecomastia, and ocular or skeletal anomalies. Regardless of the presence of hyposmia, patients without testicular enlargement (less than 2 cm3), had serum luteinizing hormone (LH) responses to luteinizing hormone-releasing factor (LRF) that were the same as in prepubertal boys. By contrast, five boys with testicular enlargement (greater than 2 cm3), some of whom had hyposmia, had a greater serum LH response to LRF than did prepubertal boys. Adrenarche was moderately delayed; although all boys initially had normal serum levels of dehydroepiandrosterone-sulfate, four boys eventually developed elevated serum levels. Bone ages were delayed compared with chronologic age in boys who had the condition after 15 years of age. The rate of linear growth was normal, and final adult heights were normal with testosterone therapy, although linear growth continued longer in these boys than in boys with normal pubertal progression. Although none of the patients was obese at the time of diagnosis, three patients developed obesity after initiation of testosterone therapy.
Asunto(s)
Gonadotropinas/deficiencia , Crecimiento , Hipogonadismo/diagnóstico , Pubertad Tardía/diagnóstico , Adolescente , Adulto , Niño , Gonadotropina Coriónica/uso terapéutico , Criptorquidismo/complicaciones , Criptorquidismo/tratamiento farmacológico , Diagnóstico Diferencial , Anomalías del Ojo , Hormona Folículo Estimulante/sangre , Ginecomastia/complicaciones , Humanos , Hipogonadismo/tratamiento farmacológico , Hormona Luteinizante/sangre , Masculino , Trastornos del Olfato/complicaciones , Pubertad Tardía/tratamiento farmacológico , Síndrome , Testosterona/uso terapéuticoRESUMEN
A recently described, distinct form of male sexual precocity is characterized by premature Leydig and germinal cell maturation in the absence of pituitary gonadotropin stimulation. Analysis of a nine-generation kindred with at least 28 affected males supports sex-limited autosomal dominant transmission. Three boys, with precocious sexual development at 1 to 4 years of age, had low basal plasma gonadotropin values without pubertal-type pulsatility and a minimal rise in luteinizing hormone after acute stimulation with luteinizing hormone releasing factor or its potent analog D-Trp6-Pro9-NEt-LRF, distinguishing them from boys with true precocious puberty. Two affected adults had a mature luteinizing hormone response to LRF. Testicular biopsies showed a progression of abnormalities in the seminiferous tubules from childhood to maturity; in one adult this disorder was associated with marked oligospermia and selective elevation of plasma follicle-stimulating hormone. The findings are consistent with an inherited intratesticular defect. Furthermore, the majority of cases of familial male sexual precocity seem to be examples of this disorder rather than central or true precocious puberty.
Asunto(s)
Gonadotropinas Hipofisarias/sangre , Pubertad Precoz/genética , Niño , Preescolar , Gonadotropina Coriónica/farmacología , Hormona Folículo Estimulante/sangre , Hormona Liberadora de Gonadotropina/farmacología , Gonadotropinas Hipofisarias/fisiología , Humanos , Células Intersticiales del Testículo/patología , Hormona Luteinizante/sangre , Masculino , Linaje , Testículo/patología , Testosterona/sangreRESUMEN
Forty-two cases of craniopharyngioma in children reviewed. Only 9.5% had sought medical attention because of symptoms suggesting hormonal deficit; however, growth retardation was present in 53% and growth hormone deficiency was documented in 72% before treatment. Multiple hypothalamic-pituitary hormone deficiencies were present in all patients after treatment. Eleven percent had normal skull radiographs at presentation; pneumonencephalograms and computed tomographic brain scans were abnormal on every occasion on which they were performed. Recurrence and mortality rates as well as the neurologic outcome of survivors were similar in children treated by radical excision and those treated by limited excision plus radiotherapy. The neurologic prognosis was poorest in those children who had limited excision or drainage without radiotherapy. Additional hypothalamic-pituitary dysfunction following treatment was less common in children who had limited excision plus radiotherapy than in children who had either limited excision or attempted total removal. Unless gross total tumor excision can be readily achieved, limited excision by transsphenoidal microsurgery or craniotomy plus radiotherapy appears to be the treatment of choice for craniopharyngioma in childhood.
Asunto(s)
Craneofaringioma/cirugía , Neoplasias Hipofisarias/cirugía , Adolescente , Niño , Preescolar , Craneofaringioma/diagnóstico , Craneofaringioma/radioterapia , Femenino , Crecimiento , Hormona del Crecimiento/deficiencia , Humanos , Hormonas Hipotalámicas/deficiencia , Lactante , Masculino , Examen Neurológico , Hormonas Hipofisarias/deficiencia , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/radioterapia , PronósticoRESUMEN
We examined the influence of fetal sex on the occurrence of respiratory distress syndrome in premature infants after maternal treatment with betamethasone. Among treated infants of 1,251 to 1,750 gm birth weight, the incidence of RDS was 40.9% in 22 males and 7.1% (P = 0.03) in 14 females. Cord serum levels of betamethasone were similar for infants of both sexes, and there was no sex difference in suppression of serum cortisol, dehydroepiandrosterone sulfate, and growth hormone after treatment. These findings suggest that prenatal corticosteroid therapy is less effective in male infants than in female infants. This effect is not due to a difference in transfer or metabolism of betamethasone, nor is it reflected in the responsiveness of the fetal hypothalamic-pituitary-adrenal axis to synthetic glucocorticoid.
Asunto(s)
Betametasona/uso terapéutico , Síndrome de Dificultad Respiratoria del Recién Nacido/prevención & control , Estudios de Evaluación como Asunto , Femenino , Humanos , Recién Nacido , Masculino , Embarazo , Factores SexualesAsunto(s)
Corteza Suprarrenal/fisiología , Estradiol/sangre , Pubertad Precoz/sangre , Femenino , HumanosRESUMEN
Prolactin was measured in umbilical cord serum obtained from 77 newborn infants of gestational age 28 to 40 weeks. A positive correlation with gestational age was demonstrated. Between 30 and 36 weeks of gestation the elevation of the regression line of the concentration of cord PRL versus gestation age was significantly lower (P less than 0.05) for those infants who developed respiratory distress syndrome compared to the regression line for infants who did not develop RDS. Between 32 and 33.5 weeks, the mean +/- SEM cord PRL concentration in infants who developed RDS (101.7 +/- 9.5 ng/ml) was significantly less (P less than 0.025) than the PRL concentration in those who did not develop RDS (161.8 +/- 18.9 ng/ml). Cord PRL did not correlate with cord cortisol or dehydroepiandrosterone sulfate concentrations. Cord growth hormone concentrations did not show any relationship to the occurrence of RDS. Serum PRL was not suppressed in a further 114 infants whose mothers were treated prenatally with betamethasone. These findings raise the possibility of a role of PRL in fetal lung maturation.
Asunto(s)
Prolactina/sangre , Síndrome de Dificultad Respiratoria del Recién Nacido/etiología , Betametasona/uso terapéutico , Deshidroepiandrosterona/sangre , Femenino , Sangre Fetal , Edad Gestacional , Hormona del Crecimiento/sangre , Humanos , Hidrocortisona/sangre , Recién Nacido , Pulmón/embriología , Embarazo , Prolactina/fisiología , Síndrome de Dificultad Respiratoria del Recién Nacido/epidemiología , Síndrome de Dificultad Respiratoria del Recién Nacido/prevención & controlRESUMEN
Four children with short stature who received irradiation to the head in conventional doses had clinical and laboratory evidence of hypothalamic-pituitary hormone deficiencies several years later. Growth hormone was deficient in all. One patient also had evidence of TSH, ACTH, and gonadotropin deficiency. Basal prolactin levels and prolactin response to synthetic TRF were normal in all patients tested. Treatment with human growth hormone significantly increased growth rate. We suggest that children should have the hypothalamic-pituitary area shielded from irradiation. Periodic measurements of hypothalamic-pituitary function should be performed in children who have had irradiation to the head, in order to detect and treat hormonal deficiencies before growth and development are seriously compromised.
Asunto(s)
Neoplasias Encefálicas/radioterapia , Neoplasias del Oído/radioterapia , Oído Medio , Neoplasias del Ojo/radioterapia , Hipopituitarismo/etiología , Radioterapia/efectos adversos , Niño , Preescolar , Femenino , Hormona del Crecimiento/metabolismo , Humanos , Hipopituitarismo/fisiopatología , Lactante , Masculino , Factores de TiempoRESUMEN
The association of hypoglycemia and microphallus in the male neonate is presumptive evidence of congenital hypopituitarism. This was observed in four male infants with normal birth weight and length, optic discs, and intelligence, and without gross central nervous system malformations. Plasma and urinary cortisol values were low. Stimulation with metyrapone and insulin hypoglycemia failed to elicit a rise in plasma corticoids, but multiple doses of ACTH evoked a response. Growth hormone responses to arginine, insulin, sleep, L-dopa, and glucagon were uniformly less than 2.5 ng/ml. In three patients, however, length remained within 2 SD of the mean until two years of age; in one, there was a sharp decrease in growth by three months. Two patients had low plasma TSH and thyroxine concentrations within the first month of life. In the other two patients, whose thyroxine levels were measurable, intravenous administration of thyrotropin-releasing factor evoked a normal rise in plasma TSH; serum thyroxine decreased into the hypothyroid range in one after GH therapy was initiated. Plasma prolactin was normal in the first two patients receiving thyroxine replacement therapy. The other two patients had elevated baseline prolactin levels and had an augmented rise in plasma prolactin after administration of TRF. Human chorionic gonadotropin induced a 10- to 15-fold rise in plasma testosterone in the two patients tested. The changes in plasma FSH and LH after luteinizing hormone-releasing factor were either low or in the prepubertal range. In three patients, treated with testosterone enanthate intramuscularly, phallic growth occurred. In addition, all three had a transient increase in height but no acceleration of skeletal maturation. The data suggest a deficiency of hypothalamic hypophysiotropic hormones rather than a primary pituitary defect. Early recognition of this syndrome complex is critical for prompt treatment of the life-threatening cortisol deficiency. The diagnosis is more difficult in affected females because their external genitals are normal. The microphallus is a remediable manifestation of hypopituitarism.