[Klinefelter syndrome in a boy with symptoms of precocious puberty].
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Abstract:
Klinefelter syndrome is one of the most frequent sex chromosomal aberration. It is usually not recognized before puberty and many patients remain never diagnosed. Delayed puberty and hypergonadotropic hypogonadism are typical in this syndrome. Early diagnosis and therapy with androgens is important for patients. We present case of 8-year old boy with Klinefelter syndrome who was admitted to our department because of precocious puberty.Keywords:
Hypergonadotropic hypogonadism
Klinefelter syndrome
Delayed puberty
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Klinefelter syndrome (KS) is one of the most common disease entities characterized by X-chromosomal aberration causing the primary hypogonadism in adult men. Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty and hypergonadotropic hypogonadism. However, it has been known that they have a broad spectrum of phenotype ranging from almost normal external appearances to typical phenotype. Only 25% KS Patients are ever diagnosed because KS remains unrecognized. Also, boys with KS have an onset of pubertal development within the normal range, not delayed onset of puberty. Adolescents with KS are generally diagnosed as having the lack of pubertal progress. Early detection of KS can be difficult without awareness. We report an unusual case of early onset of puberty in obese boy with KS who presented with a unilateral non-hormone secreting testicular teratoma. Keywords: Klinefelter syndrome, Puberty, Child
Hypergonadotropic hypogonadism
Klinefelter syndrome
Delayed puberty
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Combined antiandrogen (spironolactone) and aromatase inhibitor (testolactone) are effective for the short term treatment of familial male precocious puberty. During this therapy, plasma testosterone levels remain in the adult range, since spironolactone blocks the testosterone receptor without significantly affecting plasma testosterone levels. After our initial 18-month pilot study, we continued to treat eight boys with the combined therapy for 2.0-4.2 yr. During this time all boys exhibited a pubertal rise in gonadotropin secretion and a diminishing response to treatment, which was manifested by the recurrence of clinical features of puberty and an increase in the bone maturation rate (P < 0.05). Addition of the LHRH agonist deslorelin (4 micrograms/kg.day, sc) to the combined therapy decreased peak LH, plasma testosterone, bone maturation rate, and growth velocity (P < 0.05) over the next year. We conclude that the rise in gonadotropin levels during central activation of hypothalamic LHRH secretion in boys with familial male precocious puberty causes a partial escape from the combined effect of spironolactone and testolactone. The addition of deslorelin to the combined therapy appears to restore the control of puberty in this setting.
Bone maturation
Gonadotropin-releasing hormone agonist
Delayed puberty
Gonadotropin
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Fifty-five hypopituitary patients (43 boys and 12 girls) treated with human GH were studied longitudinally before and during puberty, occuring either spontaneously or induced with testosterone enanthate (100 mg/month, im) in boys and ethinylestradiol (10 µg/day, orally) in girls. In addition, 53 boys with idiopathic delayed puberty (IDP) were studied. Gonadotropin integrated responses (IRs) during 90 min after the iv injection of 25 µg/m2 LRH, bone ages (BA), and plasma levels of dehydroepiandrosterone sulfate and testosterone were determined at least yearly. Prepubertal hypopituitary patients with gonadotropin deficiency were characterized by:1) a lowered FSH IR to LRH in most boys and in all girls; 2) a low LH IR for BA; 3) adrenarche either absent or delayed for BA; 4) height age close to BA; and 5) the presence of several pituitary deficiencies. In contrast, most prepubertal hypopituitary patients without gonadotropin deficiency showed: 1) a normal FSH IR to LRH; 2) a normal or intermediate (≥75 mIU/ml-90 min) LH IR for BA; 3) a normal adrenarche for BA; 4) a height age below BA; and 5) isolated GH or GH plus TSH deficiencies. A significant linear correlation was found between LH IR and the logarithm of plasma testosterone. The slopes and levels were similar in controls and hypopituitary boys without gonadotropin deficiency. In IDP, the level was significantly higher. All data obtained in these patients show that the increase in plasma testosterone and the clinical onset of puberty are delayed for the observed pubertal pattern of LH responsiveness. It is concluded that the study of several clinical and biological features, especiallythe gonadotropin IR to LRH, are of predictive value for the diagnosis of normal or deficient gonadotropic function in prepubertal patients with IDP and hypopituitarism.
Delayed puberty
Gonadotropin
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Klinefelter syndrome is one of the most frequent sex chromosomal aberration. It is usually not recognized before puberty and many patients remain never diagnosed. Delayed puberty and hypergonadotropic hypogonadism are typical in this syndrome. Early diagnosis and therapy with androgens is important for patients. We present case of 8-year old boy with Klinefelter syndrome who was admitted to our department because of precocious puberty.
Hypergonadotropic hypogonadism
Klinefelter syndrome
Delayed puberty
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Suppression of gonadal sex steroid secretion in children with central precocious puberty (CPP) by LHRH analogs affords an opportunity to study sex steroid modulation of GH and somatomedin-C (Sm-C) secretion and to examine the role of GH and Sm-C in pubertal and prepubertal statural growth. Nocturnal serum GH and plasma Sm-C levels were measured in 10 preadrenarchal girls [mean age, 3.0 ± 0.6] (±sem) yr with CPP before and during 2 yr of LHRH analoginduced gonadal suppression. Their mean height velocity, initially 4.6 ± 0.6 (±sem) SD above the mean for chronological age, decreased to −0.1 ± 0.4 SD during 12–24 months of ovarian suppression (P < 0.00005). The mean peak nocturnal plasma GH level was 22.5 ± 5.4 (±sem) μg/L during puberty, and it decreased to 10.2 ±2.1 μg/L after 3 months of suppression of gonadarche. This decrease persisted throughout the 2 yr of gonadal suppression (P < 0.05). The reduction in GH secretion was accompanied by a decrease in mean plasma Sm-C levels from 3.5 ± 0.7 to 1.5 ± 0.2 U/mL after 3 months of suppression of gonadal sex steroids, which persisted during 2 yr of gonadal suppression (P < 0.01). Suppression of ovarian function in girls with CPP results in decreased height velocity. This slowing of growth occurs in association with decreased nocturnal serum GH and plasma Sm- C levels, suggesting that acceleration of growth during puberty is partially mediated by sex steroid-induced augmentation of GH secretion.
Sex steroid
Delayed puberty
Somatomedin
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The aim of the present study was to evaluate the activity of opiate receptors involved in the control of LH secretion during pubertal development, as determined by the LH response to naloxone. Normal children (n = 28) of both sexes, subdivided according to breast (girls) or testicular (boys) development, and patients with idiopathic precocious puberty (n = 7), delayed puberty (n = 8), or hypergonadotropic hypogonadism (n = 4) were studied. Plasma LH levels were measured after the administration of naloxone (NLX; 0.08 mg/kg BW, iv), GnRH (50 micrograms, iv) or placebo. In healthy subjects, NLX significantly increased plasma LH levels only in girls and boys at the most advanced stage of gonadal maturation. NLX was ineffective in prepubertal and early pubertal children, and it did not significantly alter LH levels in children with delayed puberty or hypogonadism or in most of the children with precocious puberty. GnRH injection consistently increased plasma LH levels in healthy subjects as well as in the children with pubertal disturbances. These results indicate that the LH response to NLX occurs only at the most advanced stages of pubertal maturation when normal or precocious and is absent in early puberty or in children with pubertal disturbances. Furthermore, the results suggest that opioid regulation of LH secretion in humans changes during puberty, reaching an adult-like functional state with maturation of the hypothalamus-pituitary-gonadal axis.
Delayed puberty
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We measured the production rates and metabolic clearance, disappearance and excretion rates of FSH and LH as well as plasma testosterone and delta 4-androstenedione in males with precocious and delayed puberty. In precocious puberty, we found modestly elevated FSH production early in puberty, reaching adult levels by midpuberty and remaining constant thereafter. LH production was low early in puberty, reached high levels at midpuberty and then fell. The plasma testosterone concentrations paralleled the changes in LH. This suggests that moderate FSH production is achieved by early puberty and adult levels are reached by midpuberty. On the other hand LH production is low early in puberty, reaches high levels by midpuberty and then falls again towards the end of puberty. Constitutional delay in sexual development probably consists of several syndromes due either to a delay in LH production or to FSH production or to both. One patient with hypogonadotrophic hypogonadism was also studied. He showed relatively normal LH production but very low FSH production.
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Normal puberty is associated with the onset and progressive activation of the hypothalamic-pituitary-gonadal (HPG) axis and the resultant development of secondary sexual characteristics. Puberty begins with increasing nocturnal pulsatile hypothalamic GnRH secretion, which gradually occurs throughout the 24-h day. Pulsatile GnRH stimulates pituitary FSH and LH secretion, ultimately stimulating gonadal steroid production and gametogenesis in females and males. In the ovary, FSH stimulates follicular maturation and estrogen production through aromatization of androgens, whereas LH stimulates androgen production by theca cells, triggers ovulation, and maintains progesterone production by the corpus luteum. In the testis, FSH acts on Sertoli cells to initiate spermatogenesis and LH acts on Leydig cells to stimulate testosterone production. The hypothalamic-pituitary-adrenal (HPA) axis also has some minor input into the physiological process of puberty, through the secretion of adrenal androgens. However, the major involvement of the HPA axis in puberty is in its potential pathological influence, primarily in accelerating its onset and/or progress. Traditionally, the onset of adrenal androgen secretion in childhood has been termed “adrenarche,” whereas the onset of gonadal steroid secretion has been called “gonadarche.” Delayed puberty describes the clinical condition in which the pubertal events start late or are attenuated or arrested. In contrast, precocious puberty describes the clinical condition in which the pubertal events start early. Mutations have been identified in an increasing number of genes that influence the onset and progression of puberty. These discoveries have provided new insights into the physiology and pathophysiology of this important life transition and have greatly influenced the practice of reproductive medicine. For instance, the concept of two gonadotropins acting on two separate cell types in the gonad has been the cornerstone of reproductive endocrinology, while it has been traditionally believed that both FSH and LH are required for fertility in females and males. However, studies of mutant gonadotropin receptors indicate that female reproductive capacity depends primarily on FSH, whereas male reproductive capacity depends primarily on LH. We summarize the molecular defects that influence gonadal and/or adrenal function and cause delayed (Table 1) or precocious puberty (Table 2). Here, we present genes whose alterations result in abnormal puberty in girls and boys.
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RIA tests to determine the blood levels of gonadotropins, prolactin and different fractions of androgens have shown that the time course of the endogenous level of gonadotropins and androgens in boys aged 9 to 16 with Il-III degree of obesity without clinical signs of disturbed puberty is of the same type as that in healthy boys. However much lower concentrations of testosterone and FSH with a high level of LH and dehydroepiandrosterone were noted in the former. A single administration of chorionic gonadotropin has shown that in normal puberty first develops a mechanism of rapid excretion of testosterone into blood with its maximum concentration in 24-48 h, followed by the development of a mechanism of long-term activation of androgenesis at later stages of puberty. Obese boys with delayed puberty after the type of adiposogenital dystrophy or the syndrome of wrong puberty, demonstrate a more marked blood level of testosterone and FSH than in normal puberty. The clinical level of delayed puberty is determined by the peculiarities of the hypothalamohypophyseal system: the syndrome of wrong puberty is characterized by a sharp rise of adrenal androgenesis leading to premature pubarche, a decrease in the sensitivity of gonads to LH with a simultaneous rise of its blood concentration. Moderate activation of androgenesis in the adrenal glands was observed in false adiposogenital dystrophy, the prepubertal level of LH secretion being preserved.
Delayed puberty
Sexual maturity
Human chorionic gonadotropin
Gonadotropin
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The relative contributions of GH, insulin-like growth factor-I (IGF-I), estradiol, and testosterone to the pubertal growth spurt are incompletely understood. We studied 8 patients (5 girls and 3 boys) with true precocious puberty and GH deficiency due to CNS lesions to assess the role of sex steroids in pubertal growth independent of an increase in circulating GH. Included is 1 patient with an unusual hypothalamic lesion due to head trauma. A control group of 17 GH-sufficient patients with true precocious puberty (13 girls and 4 boys) was matched for chronological age. The GH-deficient girls grew at a mean velocity of 9.2 cm/yr (range, 7.2–14.4), and the boys' mean height velocity was 7.9 cm/yr (6.1–9.9). Mean bone age was advanced in the GHdeficient group (girls, +2.7 sd; boys, +2.6 sd), but not as much as the GH-sufficient controls (girls, +5.4 SD; boys, +4.3 SD). The mean concentration of plasma IGF-I was lower in the GHdeficient group than in the control group, but was greater than the mean concentration in age-matched prepubertal GH-deficient patients. Four GH-deficient patients were treated with a potent agonist of LRF. This caused suppression of gonadal sex steroid concentrations and a fall in mean height velocity from 9.1 to 4.3 cm/yr after 1 yr of therapy; however, circulating GH and IGF-I values were not uniformly altered. We conclude that a substantial pubertal growth spurt can occur in patients with true precocious puberty and GH deficiency that is dependent on gonadal sex steroids yet unaccompanied by normal pubertal levels of circulating GH or IGF-I. Reversal of this growth acceleration is possible with sex steroid suppression. The results, in light of previous in vivo and in vitro studies, suggest that the normal pubertal growth spurt is mediated in part by direct effects of sex steroids at the growth plate.
Growth spurt
Growth velocity
Sex steroid
Delayed puberty
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Citations (126)