Assuntos
Gonadotropinas Hipofisárias/sangue , Infertilidade Masculina/história , Adolescente , Adulto , Biópsia , Gonadotropinas Hipofisárias/deficiência , História do Século XX , Humanos , Infertilidade Masculina/sangue , Infertilidade Masculina/patologia , Masculino , Pessoa de Meia-Idade , Testículo/metabolismo , Testículo/patologia , Adulto JovemRESUMO
Rathke's cleft cyst has rarely been reported in pediatric patients, and such cysts are usually found by chance, in 2-33% of routine necropsies, as they have not interfered with pituitary function. In general, they are intrasellar with a single layer of ciliated cuboidal or columnar epithelium containing mucoid material. The age range in which symptomatic Rathke's cleft cysts occur is between 30 and 60 years. This paper reports an 8.1-year-old boy presenting with growth hormone deficiency and micropenis attributable to hypogonadotropic hypogonadism (HH), implying altered pituitary function since intrauterine life. At this age (before puberty) the diagnosis of HH can be made by means of the LHRH agonist stimulation test, since conventional LHRH is not able to discriminate HH from a normal prepubertal child. To our knowledge, this is the first case of micropenis caused by Rathke's cleft cyst interfering with gonadotropin and growth hormone secretion since intrauterine life.
Assuntos
Craniofaringioma/complicações , Transtornos do Crescimento/etiologia , Hipogonadismo/etiologia , Hipopituitarismo/etiologia , Neoplasias Hipofisárias/complicações , Criança , Craniofaringioma/diagnóstico , Doenças Fetais/etiologia , Gonadotropinas Hipofisárias/deficiência , Hormônio do Crescimento Humano/deficiência , Humanos , Hipogonadismo/embriologia , Masculino , Neoplasias Hipofisárias/diagnósticoRESUMO
Estudiamos dos familias donde varios de sus hijos son deficientes de hormona del crecimiento. En una de estas, dos varones son deficientes aislados de hormona del crecimiento, mientra que en la otra, hay dos hembras y un varón afectados de defiencias de hormona del crecimiento, de gonodotropinas y de hormonas y de hormonas tiroideas. No hay consanguinidad entre los padres de las familias. Se sugiere un patrón hereditario autosómico recesivo o recesivo ligado al sexo
Assuntos
Criança , Adolescente , Adulto , Humanos , Masculino , Feminino , Gonadotropinas Hipofisárias/deficiência , Transtornos do Crescimento/genética , Hormônio do Crescimento/deficiênciaRESUMO
The pubertal maturation of five boys (Group A) who were initially thought to be gonadotropin deficient was studied over 10 to 58 months (mean 36 months) by serial physical examinatons and standard GnRH tests. Four were seen because of obesity, delayed sexual maturation, depression, and poor school performance. The other boy had acquired hypothalamic hypopituitarism at 13 years of age. Gonadotropin responses during the initial GnRH test were either absent or abnormally low as related to the degree of skeletal maturation. Subsequent responses showed progressive maturation into the normal range for adult males. These boys had normal olfaction and moderate-to-marked obesity, but initial assessment of testicular size, basal gonadotropins, and testosterone or gonadotropin responses to GnRH did not distinguish these boys from seven patients with isolated gonadotropin deficiency (Group B). Contrary to previous reports and expectations, these studies indicate that an absent or markedly blunted response to synthetic GnRH is not diagnostic of gonadotropin deficiency, even when skeletal age is 12 years or greater. Furthermore, unless a patient is hyposomic or anosmic, or has an associated anomaly such as cleft palate, isolated gonadotropin deficiency cannot be diagnosed reliably until late adolescence or early adulthood.