Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center

Varimo, Tero; Miettinen, Päivi J.; Känsäkoski, Johanna; Raivio, Taneli; Hero, Matti

doi:10.1093/humrep/dew294

Cited by 50 publications

(82 citation statements)

References 29 publications

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“…Условия, вызывающие функциональный гипогонадотропный гипогонадизм, чаще встречались у мальчиков со скоростью роста менее 3 см/год, чем у тех, кто рос быстрее (19 против 4 %; p < 0,05). Hаиболее эффективныe маркеры дискриминации у препубертатныx мальчиков с КЗРП и врожденным гипогонадотропным гипогонадизмом - тестикулярный объем (1,1 мл, с чувствительностью 100 % и специфичностью 91 %), ЛГ (4,3 МЕ/л, с чувствительностью 100 % и специфичностью 75 %) и базальный ингибин B (61 нг/л, с чувствительностью 90 % и специфичностью 83 %) [5].…”

Section: этиологияunclassified

Конституціональна Затримка Росту І Пубертату У Хлопчиків: Огляд Літератури

Grossman

Ismailov²,

Kulmirzayeva³

et al. 2021

Mìžnarodnij endokrinologìčnij žurnal

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Резюме. Oбзор сфокусирован на диагностике, клиническом и общем терапевтическом подходе к конституциональной задержке роста и полового созревания и гипогонадотрофическому гипогонадизму у мужчин, которые трудно различить. Клинический анамнез и физикальное обследование должны быть тщательно выполнены. Задержка полового развития обусловлена конституциональной задержкой роста и полового созревания у подавляющего большинства детей. Ее следует отличать от гипогонадизма-патологического состояния-у небольшой доли мальчиков. Ряд лабораторных тестов позволяет прогнозировать наступление и прогрессирование полового созревания. Тем не менее появление высокочувствительных систем иммуноанализа и радиометрического иммуноанализа для лютеинизирующего гормона, фолликулостимулирующего гормона и тестостерона не решило проблему полностью, поскольку их значения могут перекрываться между нормальными и патологическими состояниями.

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Section: этиологияunclassified

Конституціональна Затримка Росту І Пубертату У Хлопчиків: Огляд Літератури

Grossman

Ismailov²,

Kulmirzayeva³

et al. 2021

Mìžnarodnij endokrinologìčnij žurnal

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“…The pathogenesis of delayed puberty (DP) encompasses several conditions, but is most commonly due to self-limited DP. There are three main groups of differential diagnoses of self-limited DP ( Table 2): functional hypogonadism, disorders causing primary hypogonadism and GnRH deficiency leading to hypogonadotropic hypogonadism (HH) (4,20), although up to 30 different aetiologies underlying DP have been identified (21).…”

Section: Etiologymentioning

confidence: 99%

“…represents the commonest cause of DP in both sexes. Up to 83% of boys, and 30-55% of girls, with pubertal delay have self-limited DP (20)(21)(22)(23). Individuals with selflimited DP lie at the extreme end of normal pubertal timing, with the absence of testicular enlargement in boys or breast development in girls at an age that is 2 to 2.5 standard deviations (SD) later than the population mean (4).…”

Section: Etiologymentioning

confidence: 99%

“…Most recently, a single measurement of inhibin B <35 pg/mL in prepubertal boys has been shown to discriminate IHH from self-limited DP with high sensitivity(52), but this has not been demonstrated in girls. The trio of testicular volume (cut-off 1.1 ml), GnRH-induced maximal LH (cut-off 4.3 IU/L) and basal inhibin B level have been proposed as the most effective discriminators of IHH from DP in a new study(21). However, followup is often warranted before a definitive diagnosis can be made.…”

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confidence: 99%

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Management of hypogonadism from birth to adolescence

Howard

Dunkel

2018

Best Practice & Research Clinical Endocrinology & Metab

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Management of patients with hypogonadism is dependent on the underlying cause. Whilst functional hypogonadism presenting as delayed puberty in adolescence is relatively common, permanent hypogonadism presenting in infancy or adolescence is unusual. The main differential diagnoses of delayed puberty include self-limited delayed puberty (DP), idiopathic hypogonadotropic hypogonadism (IHH) and hypergonadotropic hypogonadism. Treatment of self-limited DP involves expectant observation or short courses of low dose sex steroid supplementation. More complex and involved management is required in permanent hypogonadism to achieve both development of secondary sexual characteristics and to maximize the potential for fertility. This review will cover the options for management involving sex steroid or gonadotropin therapy, with discussion of benefits, limitations and specific considerations of the different treatment options.

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“…The pathogenesis of delayed puberty (DP) encompasses several conditions, but is most commonly due to self-limited DP. There are two main groups of differential diagnosis of DP (Table 1): hypogonadotropic hypogonadism (HH) due to either functional or primary GnRH deficiency, and disorders causing primary hypogonadism [8,9], although up to 30 different aetiologies underlying DP have been identified [10].…”

Section: Causes Of Delayed Pubertymentioning

confidence: 99%

Genes underlying delayed puberty

Howard¹

2018

ESPE

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The genetic control of pubertal timing has been a field of active investigation for the last decade, but remains a fascinating and mysterious conundrum. Selflimited delayed puberty (DP), also known as constitutional delay of growth and puberty, represents the extreme end of normal pubertal timing, and is the commonest cause of DP in both boys and girls. Familial self-limited DP has a clear genetic basis. It is a highly heritable condition, which often segregates in an autosomal dominant pattern (with or without complete penetrance) in the majority of families. However, the underlying neuroendocrine pathophysiology and genetic regulation has been largely unknown. Very recently novel gene discoveries from next generation sequencing studies have provided insights into the genetic mutations that lead to familial DP. Further understanding has come from sequencing genes known to cause GnRH deficiency, next generation sequencing studies in patients with early puberty, and from large-scale genome wide association studies in the general population. Results of these studies suggest that the genetic basis of DP is likely to be highly heterogeneous. Abnormalities of GnRH neuronal development, function, and its downstream pathways, metabolic and energy homeostatic derangements, and transcriptional regulation of the hypothalamic-pituitary-gonadal axis may all lead to DP. This variety of different pathogenic mechanisms affecting the release of the puberty 'brake' may take place in several age windows between fetal life and puberty.

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Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center

Abstract: Not applicable.

Cited by 50 publications

References 29 publications

Конституціональна Затримка Росту І Пубертату У Хлопчиків: Огляд Літератури

Конституціональна Затримка Росту І Пубертату У Хлопчиків: Огляд Літератури

Management of hypogonadism from birth to adolescence

Genes underlying delayed puberty

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