In this investigation we describe our observations of the status of the aging ovary in mice with disruption of the receptor for FSH. Knockout mice at 3-5 months of age are acyclic and sterile, with very small, underdeveloped ovaries. Thus, they exhibit hypergonadotropic-hypogonadism with high levels of circulating FSH similar to the postmenopausal state in women. By 12 months more than 92% of t...

Patients with delayed puberty are frequent referrals to family practitioners, pediatricians, and endocrinologists. The problem, of course, is almost always not just a delay in the appearance or progression of secondary sexual characteristics, but also of stature. In fact, a large proportion of short stature referrals are boys in the peri-pubertal age group who sense their difference from peers ...

Dr. Jaime Moritz Brum – Laboratório de Genética Bioquímica 00SMHS Quadra 501 Bloco A 70335-901 Brasília DF Brasil. E-mail: [email protected] Congenital disorders of glycosylation (CDG) are a group of severe, autosomal recessive, multisystemic diseases, characterized by abnormal glycosylation of glycoproteins and glycolipids. The first disease of this group was reported in 1980. Since then, at leas...

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndro...

The changes in testosterone and gonadotropin levels in patients who have undergone radical prostatectomy (RP) for clinically localized prostate cancer (PCa) remain unclear. The aim of the present study was to prospectively evaluate the changes in serum testosterone (Te), luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels in the early months after RP for PCa and the correlati...

BACKGROUND This study assessed the long-term effects of cancer therapies on reproductive status in adult male childhood cancer survivors, evaluated the treatment-related risk factors for hypergonadotropic hypogonadism and assessed the association between the FSH levels and the later need for assisted reproductive techniques (ART). METHODS The study cohort included adult male 5-year survivors ...

We report a case of 42-year-old male patient with hypogonadotropic hypogonadism. He suffered from general fatigue and erectile dysfunction after the treatment with transdermal fentanyl for chronic pain by traffic injury. Endocrine examinations and hormone stimulating tests showed that he had hypogonadotropic hypogonadism. Brain magnetic resonance imaging (MRI) showed no abnormal findings, and h...

PURPOSE To evaluate the frequency of allelic variant Trp8Arg/Ile15Thr in the luteinizing hormone beta-subunit gene in a Brazilian population of healthy subjects and in patients with hypogonadotropic hypogonadism. SUBJECTS AND METHODS Two hundred and two adults (115 women) with normal sexual function and 48 patients (24 women) with hypogonadotropic hypogonadism underwent a molecular study of t...

Hemochromatosis is a disease caused by extraordinary iron deposition in parenchymal cells leading to cellular damage and organ dysfunction. β-thalassemia major is one of the causes of secondary hemochromatosis due to regular transfusional treatment for maintaining adequate levels of hemoglobin. Hypogonadism is one of the potential complications of hemochromatosis, usually seen in patients with ...

OBJECTIVE To analyze the relative risk of late-onset hypogonadism in men with osteoporosis and the usefulness of screening questionnaires. METHODS We correlated the Aging Male's Symptoms (AMS), Androgen Deficiency in Aging Male (ADAM) and International Index of Erectile Function (IIEF-5) questionnaires and the laboratory diagnosis of hypogonadism in 216 men aged 50-84 years (110 with osteopor...