Abstract We investigated whether mutations in the gene encoding gonadotropin-releasing hormone 1 (GNRH1) might be responsible for idiopathic hypogonadotropic hypogonadism (IHH) in humans. We identified a homozygous GNRH1 frameshift mutation, an insertion of an adenine at nucleotide position 18 (c.18-19insA), in the sequence encoding the N-terminal region of the signal peptide–containing protein precursor of gonadotropin-releasing hormone (prepro-GnRH) in a teenage brother and sister, who had normosmic IHH. Their unaffected parents and a sibling who was tested were heterozygous. This mutation results in an aberrant peptide lacking the conserved GnRH decapeptide sequence, as shown by the absence of immunoreactive GnRH when expressed in vitro. This isolated autosomal recessive GnRH deficiency, reversed by pulsatile GnRH administration, shows the pivotal role of GnRH in human reproduction.
摘自:《西氏内科学》,第23版
患者男性,36岁,幼年有吸入性肺损伤史,因呼吸急促和精神状态改变来我院就诊。患者睡眠和运动时,吸氧流量基值为2 L/min,每天均进行肺功能康复训练。患者居住在美国中西部,入院5天前曾离家乘船来这里看望其兄弟。入院前一天,患者呼吸急促加剧,自觉发热并注意到其慢性咳嗽稍加重,但痰液无变化。当天晚上,家人注意到患者更加急躁并有点偏执。由于症状加重,患者于次日送我院就诊。
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