A Diphasic Pattern of Gonadotropin Secretion in Patients with the Syndrome of Gonadal Dysgenesis

Conte, Felix A.; Grumbach, Melvin M.; Kaplan, Selna L.

doi:10.1210/jcem-40-4-670

Cited by 271 publications

(125 citation statements)

References 9 publications

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“…Consistent with the X chromosome rearrangement, endocrine studies showed FSH-dominant hypergonadotropic hypogonadism, which has been reported in Turner syndrome with gonadal dysgenesis (16), and FISH analysis revealed SHOX duplication on the idic(X) chromosome. Thus, this female represents a further case with the combination of SHOX overdosage and gonadal estrogen deficiency.…”

Section: Discussionsupporting

confidence: 71%

Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency

Ogata

Inokuchi

Ogawa³

2002

European Journal of Endocrinology

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Objective: To report on growth pattern and body proportion in the combination of short stature homeobox-containing gene (SHOX) overdosage and gonadal estrogen deficiency. Design: Auxological studies in a 20-year-old Japanese female with 45,X[28]/46,X,psu idic(X)(q28) [72], gonadal estrogen deficiency, and SHOX duplication on the idic(X) chromosome, who received sex steroid replacement therapy from 16 years 8 months of age. Methods: Growth pattern and body proportion were assessed by the age-matched standards for Japanese females. Results: She continued to grow with a mean height velocity of 5.0 cm/year between 8 and 12 years of age and 4.4 cm/year between 12 and 16 years 8 months of age, and ceased to grow shortly after the replacement therapy. The standard deviation score (SDS) for height was 20.9, 21.4, þ0.7 and þ 0.8 at 8, 12, 16 years 8 months and 20 years of age respectively. She showed a unique change in body proportion in her middle teens. At 8, 12, 16 years 8 months and 20 years of age, the SDS for sitting height (SH) was 20.8, 2 1.1, 2 0.9 and 20.6 respectively, the SDS for leg length (LL) was 21.2, 2 1.4, þ1.1 and þ1.4 respectively, and the SDS for SH/LL ratio was þ0.6, þ0.4, 2 1.6 and 2 1.7 respectively. Conclusions: The results provide further support for the notion that the combination of SHOX overdosage and gonadal estrogen deficiency permits continued growth with a roughly constant height velocity throughout the pubertal period of normal children, and suggest that the height gain in that period is primarily ascribed to the LL increase, as expected from SHOX expression in the distal limb bones.

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Section: Discussionsupporting

confidence: 71%

Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency

Ogata

Inokuchi

Ogawa³

2002

European Journal of Endocrinology

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“…Elevated gonadotrophin levels and slow skeletal maturation suggest that oestrogen deficiency in Turner girls begins already in infancy (38,39). Oestrogen may also have positive behavioural and neurocognitive effects in the developing brain (40,41).…”

Section: Considerations In Different Diagnostic Groupsmentioning

confidence: 99%

TRANSITION IN ENDOCRINOLOGY: Induction of puberty

Dunkel

Quinton

2014

European Journal of Endocrinology

117

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Puberty is the period during which we attain adult secondary sexual characteristics and reproductive capability. Its onset depends upon reactivation of pulsative GNRH, secretion from its relative quiescence during childhood, on the background of intact potential for pituitary-gonadal function. This review is intended: to highlight those current practices in diagnosis and management that are evidence based and those that are not; to help clinicians deal with areas of uncertainty with reference to physiologic first principles; by sign-posting relevant data arising from other patient groups with shared issues; to illustrate how recent scientific advances are (or should be) altering clinician perceptions of pubertal delay; and finally, to emphasise that the management of men and women presenting in advanced adult life with absent puberty cannot simply be extrapolated from paediatric practice. There is a broad spectrum of pubertal timing that varies among different populations, separated in time and space. Delayed puberty usually represents an extreme of the normal, a developmental pattern referred to as constitutional delay of growth and puberty (CDGP), but organic defects of the hypothalamo-pituitary-gonadal axis predisposing to hypogonadism may not always be initially distinguishable from it. CDGP and organic, or congenital hypogonadotrophic hypogonadism are both significantly more common in boys than girls. Moreover, around 1/3 of adults with organic hypogonadotrophic hypogonadism had evidence of partial puberty at presentation and, confusingly, some 5-10% of these subsequently may exhibit recovery of endogenous gonadotrophin secretion, including men with Kallmann syndrome. However, the distinction is crucial as expectative ('watch-and-wait') management is inappropriate in the context of hypogonadism. The probability of pubertal delay being caused by organic hypogonadism rises exponentially both with increasing age at presentation and the presence of associated 'red flag' clinical features. These 'red flags' comprise findings indicating lack of prior 'mini-puberty' (such as cryptorchidism or micropenis), or the presence of non-reproductive congenital defects known to be associated with specific hypogonadal syndromes, e.g. anosmia, deafness, mirror movements, renal agenesis, dental/digital anomalies, clefting or coloboma would be compatible with Kallmann (or perhaps CHARGE) syndrome. In children, interventions (whether in the form or treatment or simple reassurance) have been historically

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“…That the plasma concentrations of LH and FSH in castrated rams also varied with age suggests that changes in the secretion of the gonadotrophins can occur independently of the hormones secreted by the testes and this has been demonstrated previously. In agonadal children (Conte et al 1975, Reiter & Grumbach 1981 and in castrated male Rhesus monkeys (Plant 1980), the FSH and LH levels were high for 2 years post-partum, then declined and rose again about the time puberty would have occurred. A similar phase of elevated FSH secretion was noted in castrated rams at 5 weeks of age (Olster & Foster 1986).…”

Section: Discussionmentioning

confidence: 99%

Changes in the suppressive effects of recombinant inhibin A on FSH secretion in ram lambs during sexual maturation: evidence for alterations in the clearance rate of inhibin

Tilbrook

Kretser

Clarke³

1999

Journal of Endocrinology

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We have investigated the effectiveness of human recombinant inhibin A (hr-inhibin A) to suppress the secretion of follicle-stimulating hormone (FSH) in ram lambs from 1 to 18 months of age. Seventeen rams (nine castrated, eight intact) were used. At 1, 3, 6, 9, 12 and 18 months of age the rams were given an i.v. injection of either vehicle or hr-inhibin A (0·64 µg/kg). Blood samples were taken over 24 h. Plasma concentrations of FSH were suppressed in castrated and intact rams following injection of hr-inhibin A with maximal suppression occurring 6 h after injection. Vehicle injection had no effect. At 12 months of age the suppression in FSH was most rapid in castrated rams and was maximal in intact rams. The clearance rate of inhibin was greatest at older ages but during the period of seasonally induced testicular activity, there was a significant decrease in the inhibin clearance. The testicular weight was reduced in rams treated with hr-inhibin A, indicating the importance of FSH for testicular development during the pubertal period. There was no effect of hr-inhibin A on plasma concentrations of luteinizing hormone. We conclude that inhibin is capable of suppressing the secretion of FSH in rams from 1 month of age onwards and that the pituitary gland becomes maximally responsive to the actions of inhibin by the age of puberty.

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A Diphasic Pattern of Gonadotropin Secretion in Patients with the Syndrome of Gonadal Dysgenesis

Cited by 271 publications

References 9 publications

Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency

Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency

TRANSITION IN ENDOCRINOLOGY: Induction of puberty

Changes in the suppressive effects of recombinant inhibin A on FSH secretion in ram lambs during sexual maturation: evidence for alterations in the clearance rate of inhibin

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