GnRH and HCG Tests Are Both Necessary in Differential Diagnosis of Male Delayed Puberty

Dunkel, Leo; Perheentupa, Jaakko; Virtanen, Martti; Mäenpää, J

doi:10.1001/archpedi.1985.02140070068036

Cited by 18 publications

(12 citation statements)

References 19 publications

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“…Basal serum gonadotropin concentrations were shown to be poor discriminators except in one study . Pharmacological stimulation of gonadotropins by GnRH also showed overlapping gonadotropin serum concentrations . In contrast, pharmacological stimulation of gonadotropins by GnRH agonists (GnRHa) showed a significantly higher discriminatory potential.…”

Section: Introductionmentioning

confidence: 92%

Inhibin B plus LH vs GnRH agonist test for distinguishing constitutional delay of growth and puberty from isolated hypogonadotropic hypogonadism in boys

Binder

Schweizer

Blumenstock

et al. 2014

Clinical Endocrinology

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Section: Introductionmentioning

confidence: 92%

Inhibin B plus LH vs GnRH agonist test for distinguishing constitutional delay of growth and puberty from isolated hypogonadotropic hypogonadism in boys

Binder

Schweizer

Blumenstock

et al. 2014

Clinical Endocrinology

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“…The poor or subnormal T response would be characteristic of KS and other disorders with true HH because males with delayed puberty usually show a sufficient T response after hCG stimulation (Ref. 38, and Sato, N., N. Katsumata, R. Horikawa, and T. Tanaka, unpublished observation).…”

Section: Clinical Features In Patients With Kal1 Mutationsmentioning

confidence: 99%

Clinical Assessment and Mutation Analysis of Kallmann Syndrome 1 (KAL1) and Fibroblast Growth Factor Receptor 1 (FGFR1, orKAL2) in Five Families and 18 Sporadic Patients

Sato¹,

Katsumata²,

Kagami³

et al. 2004

The Journal of Clinical Endocrinology & Metabolism

203

167

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We report on the clinical and molecular findings in 25 males and three females with Kallmann syndrome (KS) aged 10-53 yr. Ten males were from five families, and the remaining 15 males and three females were apparently sporadic cases. Molecular studies were performed for Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, also known as KAL2) by sequence analysis for all the coding exons, by PCR-based deletion analysis, and by fluorescence in situ hybridization (FISH) analysis, showing six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases and two novel intragenic FGFR1 mutations in two sporadic male cases. In addition, submicroscopic deletions at Xp22.3 involving VCX-A, STS, KAL1, and OA1 were identified in three familial cases and one sporadic male case affected by a contiguous gene syndrome. Clinical assessment in the 15 males with KAL1 mutations showed normal and borderline olfactory function in two males and right-side dominant renal lesion in seven males, in addition to variable degrees of hypogonadotropic hypogonadism (HH) in all the 15 males and olfactory dysfunction in 13 males. The two males with FGFR1 mutations had HH and anosmia and lacked other features. Clinical features in the remaining 11 cases with no demonstrable KAL1 or FGFR1 mutations included right renal aplasia in one female, cleft palate in one male, cleft palate and perceptive deafness in one male, and dental agenesis and perceptive deafness in one male, in addition to a variable extent of HH and olfactory dysfunction. The results suggest the following: 1) KAL1 mutations might be more prevalent in the Japanese patients than previously estimated in the Caucasian patients and can be associated with apparently normal olfactory function; 2) FGFR1 mutations account for approximately 10% of KS patients, as previously reported in the Caucasian patients, and can result in HH and olfactory dysfunction-only phenotype; and 3) renal aplasia, which is characteristic of KAL1 mutations, and cleft palate and dental agenesis, which are characteristic of FGFR1 mutations, can occur in patients without KAL1 and FGFR1 mutations.

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“…Eight boys had isolated hypogonadotrophic hypogonadism (HH) (group C). In the two youngest boys the diagnosis of HH was based on subnormal gonadotrophin response to GnRH (Dunkel et al 1985a). The diagnosis of HH in the other 6 boys was confirmed by two clinical criteria during a 2.5-2.9 year follow-up after the study: 1) a clearly prepubertal testis size at bone age 13 years or older and 2) absence of pubertal penis growth at bone age 13 years or older.…”

Section: Subjectsmentioning

confidence: 99%

“…The relative body weight of all the boys varied between 80-120% of the mean weight for boys of the same height. (Dunkel et al 1985a). They were given a single iv injection, 3.5 pg/kg, of GnRH (Relefact, Hoechst AG, Frankfurt, West-Germany).…”

Section: Subjectsmentioning

confidence: 99%

Decrease in serum sex hormone binding globulin during human chorionic gonadotrophin stimulation in prepubertal boys

Dunkel

1985

Acta Endocrinologica

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Temporal relationships between steroidogenic and sex hormone binding globulin (SHBG) responses to hCG were studied in 27 prepubertal boys: 19 with incomplete testicular descent and 8 with hypogonadotrophic hypogonadism (HH). Nine of the boys with incomplete testicular descent were given a single im injection of hCG and blood samples were taken daily for 5 days. Six of them showed a slight decrease in SHBG concentration by day 5. All the other 18 boys were given four im injections of hCG on days 0, 4, 7 and 10. Blood was taken before each injection and on day 14. In the boys with incomplete testiscular descent SHBG concentration decreased by day 14 (P < 0.01). All the boys with HH had an impaired testosterone response to hCG, and SHBG levels did not decrease after hCG. In only 2 of these boys SHBG concentrations were > 10% below the basal by day 14. These boys, however, also had the highest testosterone responses of their group. Thus it appears that if testosterone increases in prepubertal boys, SHBG decreases.The serum concentration of sex hormone binding globulin (SHBG) depends on the hormonal milieu.In adults it is increased by oestrogens and thyroid hormones and decreased by androgens (Anderson 1974).Very little is known about the regulation of the serum concentration of SHBG in children. hCG stimulation has been reported to cause a decrease in prepubertal cryptorchid boys but the time course of the decrease was evaluated in only one

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GnRH and HCG Tests Are Both Necessary in Differential Diagnosis of Male Delayed Puberty

Cited by 18 publications

References 19 publications

Inhibin B plus LH vs GnRH agonist test for distinguishing constitutional delay of growth and puberty from isolated hypogonadotropic hypogonadism in boys

Inhibin B plus LH vs GnRH agonist test for distinguishing constitutional delay of growth and puberty from isolated hypogonadotropic hypogonadism in boys

Clinical Assessment and Mutation Analysis of Kallmann Syndrome 1 (KAL1) and Fibroblast Growth Factor Receptor 1 (FGFR1, orKAL2) in Five Families and 18 Sporadic Patients

Decrease in serum sex hormone binding globulin during human chorionic gonadotrophin stimulation in prepubertal boys

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