CONTEXT: The biphasic ontogeny of serum gonadotrophins observed in normal children also exists in girls with gonadal dysgenesis, although with higher levels. However, limited data exist in prepubertal boys with anorchia. OBJECTIVE: To investigate whether the existence of testicular tissue is required for gonadotrophin downregulation in boys. Secondarily, we analysed the prevalence of high gonadotrophins and its diagnostic value to assess the presence or absence of testes in childhood. STUDY DESIGN: In a retrospective, semi-longitudinal study, we compared serum gonadotrophin levels in 35 boys with anorchia aged 0-18 years, in 29 bilaterally cryptorchid boys with abdominal testes and in 236 normal boys. RESULTS: In anorchid boys, follicle stimulating hormone (FSH) and luteinizing hormone (LH) were abnormally high in the first months after birth, then decreased progressively. LH decreased more readily than FSH and dropped to normal values in up to 70% of anorchid patients before the usual age of pubertal onset, when both gonadotrophins increased again to very high levels. In cryptorchid boys, FSH was elevated in a significantly (P < 0·0001) lower proportion of cases. Below the age of 6 years, FSH below 2 IU/l ruled out anorchia and LH above 5 IU/l confirmed anorchia with high accuracy. Between 6 and 11 years, FSH or LH levels above 5 IU/l were highly specific for the absence of testes. CONCLUSIONS: The U-shaped pattern of serum gonadotrophins observed in normal males from birth to puberty was also found in anorchid boys, but with gonadotrophin levels considerably elevated. Serum gonadotrophin levels may normalize in anorchid boys during late childhood only to rise again at puberty. The presence of testicular tissue results in restrain of gonadotrophin secretion in most patients, even if the testes are cryptorchid.
CONTEXT: The biphasic ontogeny of serum gonadotrophins observed in normal children also exists in girls with gonadal dysgenesis, although with higher levels. However, limited data exist in prepubertal boys with anorchia. OBJECTIVE: To investigate whether the existence of testicular tissue is required for gonadotrophin downregulation in boys. Secondarily, we analysed the prevalence of high gonadotrophins and its diagnostic value to assess the presence or absence of testes in childhood. STUDY DESIGN: In a retrospective, semi-longitudinal study, we compared serum gonadotrophin levels in 35 boys with anorchia aged 0-18 years, in 29 bilaterally cryptorchid boys with abdominal testes and in 236 normal boys. RESULTS: In anorchid boys, follicle stimulating hormone (FSH) and luteinizing hormone (LH) were abnormally high in the first months after birth, then decreased progressively. LH decreased more readily than FSH and dropped to normal values in up to 70% of anorchid patients before the usual age of pubertal onset, when both gonadotrophins increased again to very high levels. In cryptorchid boys, FSH was elevated in a significantly (P < 0·0001) lower proportion of cases. Below the age of 6 years, FSH below 2 IU/l ruled out anorchia and LH above 5 IU/l confirmed anorchia with high accuracy. Between 6 and 11 years, FSH or LH levels above 5 IU/l were highly specific for the absence of testes. CONCLUSIONS: The U-shaped pattern of serum gonadotrophins observed in normal males from birth to puberty was also found in anorchid boys, but with gonadotrophin levels considerably elevated. Serum gonadotrophin levels may normalize in anorchid boys during late childhood only to rise again at puberty. The presence of testicular tissue results in restrain of gonadotrophin secretion in most patients, even if the testes are cryptorchid.
Authors: Andrea Salonia; Giulia Rastrelli; Geoffrey Hackett; Stephanie B Seminara; Ilpo T Huhtaniemi; Rodolfo A Rey; Wayne J G Hellstrom; Mark R Palmert; Giovanni Corona; Gert R Dohle; Mohit Khera; Yee-Ming Chan; Mario Maggi Journal: Nat Rev Dis Primers Date: 2019-05-30 Impact factor: 52.329
Authors: Romina P Grinspon; Nazareth Loreti; Débora Braslavsky; Clara Valeri; Helena Schteingart; María Gabriela Ballerini; Patricia Bedecarrás; Verónica Ambao; Silvia Gottlieb; María Gabriela Ropelato; Ignacio Bergadá; Stella M Campo; Rodolfo A Rey Journal: Front Endocrinol (Lausanne) Date: 2014-05-07 Impact factor: 5.555
Authors: Romina P Grinspon; Silvia Gottlieb; Patricia Bedecarrás; Rodolfo A Rey Journal: Front Endocrinol (Lausanne) Date: 2018-04-25 Impact factor: 5.555
Authors: Santiago Brugo Olmedo; Sabrina De Vincentiis; Evelyn De Martino; Patricia Bedecarrás; Ana María Blanco; Analía Freire; Mariano G Buffone; Rodolfo A Rey Journal: PLoS One Date: 2013-09-17 Impact factor: 3.240