DELAYED PUBERTY & HYPOGONADISM

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Presentation transcript:

DELAYED PUBERTY & HYPOGONADISM M. Šnajderová Photos of patients and other documents which are subject to copyright were removed

DELAYED PUBERTY

Etiology of delayed puberty in boys and in girls

SPECTRUM OF DELAYED PUBERTY Hypogonadism CDGP Normal puberty

Causes of delay or lack of pubertal development 1 Hypergonadotropic states (primary gonadal failure) chromosomal, genetic disorders, and syndromes (47, XXY, TS, 45X/46 XY…) Acquired (autoimmune, chemotherapy, infectious, irradiation, surgical, torsion, traumatic)

Causes of delay or lack of pubertal development 2 Hypogonadotropic states (hypothalamic-pituitary defect or lag) Gonadotropin deficiency acquired congenital, genetic, syndromes endocrinopathies

Causes of delay or lack of pubertal development 3 Dealyed or deferred function CDG/P chronic illness Drug abuse Excessive energy expenditure, exercise Exogenous obesity Endocrinopathies Malnutrition Psychiatric illness

Examination History Physical examination (growth, Tanner, weight) Laboratory evaluation (LH, FSH, E2, T, … T4, TSH, DHEAS, BA, MRI …)

Constitutional delay of growth and puberty Prepubertal FSH, LH, T (GnRH test) Transient GH deficiency  IGF-I, FSH a LH Psychologic troubles !!! Final height? ? Any chronic disease? Nutrition? Physical activity?

DELAYED PUBERTY – THERAPY Induction of puberty Hormonal substitution therapy Fertility ??? (hypergonadotropic x hypogonadotropic hypogonadism)

GnRH test ??? HYPOTHALAMUS HYPOTHALAMUS PITUITARY FSH,  LH PITUITARY  LH,  FSH GONADS  T, E2 GONADS  T, E2 hCG GONADS  T Therapy: GnRH, hCG, gonadotrophins, (T, E) Therapy: hCG, gonadotrophins, (T, E)

Permanent hypogonadism

↓hormonal hypothalamus production putuitary gonads HYPOGONADISM Inborn errors, genetics, neoplasm (Rx, CH, surgery) trauma, inflammation, autoimmunity, after therapy… ↓hormonal production hypothalamus putuitary gonads Functional disturbance HYPOGONADISM

Predicted height Final height M2 Induction of puberty induction High dose of E2 Induction of puberty and HRT in girl With hypergonadotropic hypogonadism Optimal, very good effect Predicted height Final height M2 Induction of puberty induction

Sexual development and normal function PUBERTY DISORDERS Early diagnostics Therapy and follow-up AIM Sexual development and normal function of reproductive axis (if possible)