Case report. Successive pregnancies in a patient with premature ovarian failure

A woman, age 28 yr, visited the gynecological endocrine clinic for oligomenorrhea and primary infertility. Serum FSH and LH levels were high and estrogen concentrations were subnormal. In spite of the presence of high and sustained gonadotropin concentrations, resumption of ovarian function with evident ovulation resulted in the first pregnancy after clomiphene therapy. Four years later the patient did not respond to clomiphene but intramuscular progesterone was effective in induction of ovulation, followed by the second pregnancy. The effect of progesterone on hypergonadotropic ovarian failure is discussed.     

Hypergonadotropic Hypogonadism in Newborn Males with Primary Testicular Failure

ABSTRACT. Four infants with genital ambiguity but with apparent testes were given a gonadotropin-releasing hormone (GnRH) test and a human chorionic gonadotropin (hCG) test at age 3–12 days. The results were compared with those from 16 newborn males (aged 2 to 6 days) with minor genital anomalies; 9 with unilateral and 3 with bilateral incomplete testicular descent, 2 with surgically insignificant glandular hypospadias and 2 with penis length <(-2 SD) for gestational age. Treatment with testosterone resulted in clear phallus growth in all four patients. All four patients had elevated basal luteinizing hormone (LH) concentrations as well as an exaggerated LH response to GnRH; three of them also had an exaggerated follicle stimulating hormone (FSH) response. Thus in all patients the etiology of genital ambiguity was considered to be testicular. The testosterone response to hCG was normal in two of the patients but impaired in the other two. The steroidogenic response did not show any specific enzyme defect. We conclude that 1) newborn boys with Leydig cell failure are clearly hypergonadotropic, 2) the GnRH test is a more sensitive indicator of Leydig cell failure neonatally than the hCG test and 3) normal testes greatly inhibit the secretion of both LH and FSH during the first week of life.     

Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome

We report two new cases of Rothmund-Thomson syndrome which emphasize the less well-known non-dermatological complications, namely: hypodontia, soft tissue contractures, proportionate short stature, hypogonadism, anaemia and osteogenic sarcoma. Genetic analysis of these and previously reported pedigrees supports autosomal recessive inheritance.     

Sexual Development and Activity of Men with Disturbances of Somatic Development

Sexuelle Entwicklung und Aktivität bei Männern mit somatischen Entwicklungsstörungen
Mittels Fragebogen HTDM und SAM wurde die heterosexuelle Entwicklung und die sexuelle Aktivität bei folgenden Gruppen von Männern untersucht:

• 1. 

  die Kontrollgruppe besteht aus 345 verheirateten Männern aus unfruchtbaren Ehen, die somatosexuell normal entwickelt waren, eine Normozoospermie im Ejakulat und eine gute Potenz aufwiesen;
• 2. 

  bei Erwachsenen mit einseitigem (n = 48) und beiderseitigem (n = 57) Kryptorchismus;
• 3. 

  bei 101 verheirateten Männern mit einer deutlichen Hodenhypoplasie (die Längsachse beider Hoden war kürzer als 30 mm);
• 4. 

  bei 110 Patienten mit Klinefelter Syndrom;
• 5. 

  bei 14 Patienten mit hypogonadotropem Hypogonadismus.

Während eine Retardation der heterosexuellen Entwicklung nur in zwei Gruppen (4 und 5) gefunden wurde, konnte eine signifikant herabgesetzte Aktivität im Sexualleben in allen vier pathologischen Gruppen festgestellt werden.     

Testosterone replacement therapy after primary treatment for prostate cancer

PURPOSE: A history of prostate cancer has been an absolute contraindication for testosterone supplementation. We studied a cohort of hypogonadal patients treated with radical retropubic prostatectomy (RRP) for organ confined prostate cancer to determine if testosterone replacement therapy (TRT) could be efficacious and administered safely without causing recurrent prostate tumor. MATERIALS AND METHODS: Ten hypogonadal patients previously treated with RRP for organ confined prostate cancer were identified. They presented with low serum total testosterone (TT) and symptoms of hypogonadism after RRP. Patients had baseline serum determinations of prostate specific antigen (PSA) and TT, and were started on testosterone supplementation. They were assessed periodically for changes in PSA and TT, and for symptomatic improvement using the hormone domain of the Extended Prostate Inventory Composite Health Related Quality of Life questionnaire. RESULTS: At a median followup of 19 months no patient had detectable (greater than 0.1 ng/ml) PSA. TT increased significantly after starting TRT from a mean +/- SD of 197 +/- 67 to 591 +/- 180 ng/dl (p = 0.0002). The Hormone Domain of the Extended Prostate Inventory Composite Health Related Quality of Life questionnaire increased significantly from 38 +/- 5 to 49 +/- 3 (p = 0.00005), primarily due to a decrease in hot flashes and an increase in energy level. CONCLUSIONS: At a median of 19 months of TRT hypogonadal patients with a history of prostate cancer had no PSA recurrence and had statistically significant improvements in TT and hypogonadal symptoms. In highly select patients after RRP TRT can be administered carefully and with benefit to hypogonadal patients with prostate cancer.     

Effects of testosterone replacement on sexual behavior in hypogonadal men

Fifteen patients with hypogonadism due to testicular, pituitary, or hypothalamic failure were studied. After a pretreatment period without substitution, patients received intramuscular injections of testosterone enanthate, equivalent to 25, 50, 100, and 250 mg testosterone, or placebo. Each dose was given for 4 weeks, with injections given every 2 weeks. All patients with plasma testosterone values below 2 ng/ml during the pretreatment period reported impaired sexual function. They responded to testosterone injections (50, 100, and 250 mg) with improvement of sexual behavior, as rated by sexual desire and frequency of erections and ejaculations. In the range between 2.0 and 4.5 ng testosterone per ml, four patients reported high frequencies of erections and ejaculations that did not change after testosterone treatment. Four other patients with testosterone values in the same range reported impaired sexual behavior and were successfully treated with testosterone enanthate. These data indicate that male sexual behavior is testosterone dependent and that the individual limit of plasma testosterone below which sexual behavior is impaired lies between 2.0 and 4.5 ng/ml.     

Testicular Sperm Extraction (TESE) and Intracytoplasmic Sperm Injection (ICSI) in Hypogonadotropic Hypogonadism with Persistent Azoospermia After Hormonal Therapy

PURPOSE: We aimed to retrieve testicular sperm to be employed on intracytoplasmic sperm injection (ICSI) cycles on a male affected of hypogonadotropic hypogonadism (HH) that remained azoospermic after long-time hormonal treatment. METHODS: Design. We initially performed hormonal therapy using gonadotropins to achieve spermatogenesis. After several semen analyses, we weighed the possibility of looking for testicular spermatozoa for ICSI. Setting. A private university-affiliated setting. Patient. A 30-years-old man diagnosed 10 years ago to suffer from idiopathic, prepubertal HH. Interventions. Gonadotrophin treatment was initiated with hCG and follicle stimulating hormone (FSH). Testicular sperm extraction was carried out when repeated spermiograms were negative. Motile testicular spermatozoa were cryopreserved and were subsequently employed for ICSI. Multiple follicular development was stimulated with gonadotropins after a downregulation with gonadotropin-releasing hormone (GnRH) antagonists in the woman. Main Outcome Measures. Seminal analyses were performed after 3, 6, and 12 months of treatment and serum FSH, luteinizing hormone (LH) and testosterone levels were also measured. RESULTS: Seminal analysis showed always azoospermia. Serum FSH was 2.9 mIU/mL, serum LH >1 mIU/mL and serum testosterone 7.9 ng/mL (12 months after treatment). Nine oocytes were collected by ultrasound-guided transvaginal route and eight of them were microinjected with motile, frozen-thawed testicular spermatozoa. Four oocytes were fertilized. Three embryos were transferred without pregnancy. CONCLUSIONS: The case report here presented shows that the currently available assisted reproduction techniques may be of value in patients with HH not responding to conventional hormonal treatments.     

Pregnancy and Delivery After Stimulation with rFSH of a Galatosemia Patient Suffering Hypergonadotropic Hypogonadism: Case Report

PURPOSE: To determine if hypergonadotropic hypogonadism related to galactosemia could be linked to anomaly of the circulating FSH. A 26-year-old woman, suffering GALT (Galactoso-1-phosphate uridyltransferase) had a premature ovarian failure with amenorrhea since the age of 19. The circulating level for FSH was 83 and 34 mU/mL for LH. METHODS: After treatment with a hormonal substitution cycle including estradiol and progesterone, the patient underwent stimulations with recombinant FSH. The first cycle, one 16-mm diameter follicle and the second cycle one follicle of 17.5 mm of diameter were obtained at the time of ovulation induction. RESULTS: The patient conceived and delivered a female baby weighting 3.38 kg after the second stimulation protocol. CONCLUSIONS: The impact of galactosemia on the ovary seems rather related to the absence of recognition of circulating FSH by its receptor and not to a toxic alteration of the ovary by itself as it is currently reported. The rFSH treatment following hormonal substitution cycles allows to overcome infertility problems.