Cryptorchidism is a useful clue for Idiopathic Hypogonadotropic Hypogonadism in Pituitary Stalk Thickening / Journal of the ASEAN Federation of Endocrine Societies

@#Pituitary stalk lesions can represent a wide range of pathologies. The exact cause is often unknown due to hesitancy to proceed with biopsy. We present a 16-year-old adolescent who presented with delayed puberty, short stature and bilateral cryptorchidism. He was found to have a thickened pituitary stalk of uncertain etiology with partial hypopituitarism (gonadotrophin and growth hormone deficiency) on further assessment. The presence of bilateral cryptorchidism and micropenis represents lack of “mini puberty,” a phenomenon of activation of the hypothalamic-pituitary-gonadal (HPG) axis in-utero or within the first few months of life.1 These key clinical features have been useful to establish an early temporal relationship and suggest a congenital origin of disease. This enabled a more conservative approach of surveillance to be employed as opposed to invasive pathological examination with pituitary stalk biopsy.

New perspectives in the diagnosis of pediatric male hypogonadism: the importance of AMH as a Sertoli cell marker / Novas perspectivas no diagnóstico do hipogonadismo pediátrico masculino: a importância do AMH como marcador de células de Sertoli

Sertoli cells are the most active cell population in the testis during infancy and childhood. In these periods of life, hypogonadism can only be evidenced without stimulation tests, if Sertoli cell function is assessed. AMH is a useful marker of prepubertal Sertoli cell activity and number. Serum AMH is high from fetal life until mid-puberty. Testicular AMH production increases in response to FSH and is potently inhibited by androgens. Serum AMH is undetectable in anorchidic patients. In primary or central hypogonadism affecting the whole gonad and established in fetal life or childhood, serum AMH is low. Conversely, when hypogonadism affects only Leydig cells (e.g. LHβ mutations, LH/CG receptor or steroidogenic enzyme defects), serum AMH is normal or high. In pubertal males with central hypogonadism, AMH is low for Tanner stage (reflecting lack of FSH stimulus), but high for the age (indicating lack of testosterone inhibitory effect). Treatment with FSH provokes an increase in serum AMH, whereas hCG administration increases testosterone levels, which downregulate AMH. In conclusion, assessment of serum AMH is helpful to evaluate gonadal function, without the need for stimulation tests, and guides etiological diagnosis of pediatric male hypogonadism. Furthermore, serum AMH is an excellent marker of FSH and androgen action on the testis.

As células de Sertoli são a população de células mais ativa nos testículos durante a primeira e segunda infância. Neste período, o hipogonadismo só pode ser evidenciado sem o uso de testes estimulatórios se a função das células de Sertoli for avaliada. O AMH é um marcador útil do número e da atividade das células de Sertoli no período pré-puberal. A concentração sérica de AMH é alta da metade da vida fetal até a metade da puberdade. A produção de AMH pelos testículos aumenta em resposta ao FSH e é potencialmente inibida por androgênios. O AMH sérico não é detectável em pacientes anorquídicos. No hipogonadismo central ou primário afetando a gônada inteira, ou estabelecido na vida fetal ou infância, a concentração de AMH sérica é baixa. Por outro lado, quando o hipogonadismo afeta apenas as células de Leydig (por exemplo, nas mutações, LHβ, defeitos do receptor de LH/CG ou das enzimas esteroidogênicas), a concentração de AMH sérico é normal ou alta. Em meninos púberes com hipogonadismo central, a concentração de AMH é baixa para o estágio na escala de Tanner (refletindo a falta de estímulo pelo FSH), mas alta para a idade (indicando a falta do efeito inibidor da testosterona). O tratamento com FSH provoca um aumento do AMH sérico, enquanto a administração de hCG aumenta os níveis de testosterona, que fazem a downregulation do AMH. Em conclusão, a concentração sérica de AMH é útil na avaliação da função gonadal, excluindo a necessidade de testes estimulatórios, e direciona o diagnóstico etiológico do hipogonadismo pediátrico masculino. Além disso, o AMH sérico é um marcador excelente da ação do FSH e dos androgênios nos testículos.

Increased copper content in hair mineral assay of anorexia nervosa patients: 3 cases / 대한산부인과학회지

Anorexia nervosa is a kind of dietary disorder which causes amenorhea, weight loss, behavioral changes, and its hormonal status is typical hypogonadotrophic hypogonadism. The patients with anorexia nervosa showed many hormonal and chemical abonormal findings, like decresed follicular stimulating hormone, decreased lutealizing hormone and estrogen, increased cortisol, hypokalemia, hypercarotenemia. But tissue mineral contents of anorexia nervosa were not reported. We experience the typical increase of tissue copper contents in three anorexia nervosa patients in recent days, so report them with reviews of literatures.

Two Cases of Kallmann Syndrome Presented with Delayed Puberty / 대한소아내분비학회지

Kallmann syndrome is caused by the defects of migration of the olfactory and GnRH neurons from the olfactory placodes to the brain, and characterized by hypogonadotropic hypogonadism, and anosmia or hyposmia. This syndrome is genetically heterogeneous and transmitted by an X-linked, autosomal dominant or recessive trait. We experienced two patients with Kallmann syndrome presented with delayed puberty, sensorineural hearing loss and anosmia. Hypogonadotropic hypogonadism was demonstrated by combined anterior pituitary function tests in both patients. Magnetic resonance imaging of both patients revealed deficiency of olfactory sulcus and absent olfactory bulbs. These patients have been under treatment with testosterone enanthate, resulting in increasing penile length. We report here two typical cases of Kallmann syndrome with review of the literature.

A Case of Kallmann Syndrome and A Case of Successful Pregnancy of Kallmann Syndrome Patient / 대한산부인과학회잡지

Kallmann's syndrome is characterized by hypogonadotrophic hypogonadism resulting from insufficient release of GnRH and associated with anosmia or hyposmia, which has been related to agenesis of olfactory bulbs. We experienced a case of 17 year-old Kallmann's syndrome woman and a case of successful pregnancy of 29 year-old Kallmann's syndrome woman with hMG and hCG treatment and present two cases with a review of literatures.

Male Infertility secondary to Pituitary Apoplexy after Korean Hemorrhagic Fever / 대한비뇨기과학회지

We report a case of male infertility secondary to pituitary apoplexy, which occurred as a sequela of korean hemorrhagic fever. A 32 years old male patient with past history of korean hemorrhagic fever was studied because of infertility and erectile impotence. The size of his testicles were about 8ml in Rt. and Lt. Semen analysis, endocrinologic studies, and brain MRI demonstrated hypogonadotrophic hypogonadism due to panhypopituitarism. The patient was treated with HCG (2,000 IU) administered intramuscularly three times per week for 6 months. After the treatment, improvement of male secondary sex characteristics such as hair growth and testicle size was noted. Promotion of sexual potency and improvement of semen quality were also noted. Following the treatment, his wife conceived after 6 months.