Introduction Infertility, which is defined as the inability to conceive after 1 year of unprotected intercourse, has a global prevalence of 9% (1) . Among infertile couples, it is estimated that the cause is predominantly feminine in 38% and
André Marques-Pinto and Davide Carvalho
D Santi, A R M Granata and M Simoni
Introduction Rationale Infertility is conventionally defined as a clinical condition affecting a couple failing to conceive after a period of 12 months of regular intercourse without contraception (1) . Male infertility plays a significant role in
Wolfgang Koechling, Daniel Plaksin, Glenn E Croston, Janni V Jeppesen, Kirsten T Macklon and Claus Yding Andersen
, and regulating ovarian steroidogenesis ( 1 ). In addition, exogenous FSH plays a central role in the treatment of infertility ( 2 ), including in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI), with the GnRH antagonist protocol
Luminita Nicoleta Cima, Anca Colita and Simona Fica
). Gonadal insufficiency and subsequent infertility are frequent problems that long-term HSCT survivors and their partners face with a negative impact on their QoL ( 4 , 5 ). Beside infertility, premature ovarian failure (POF) can have a significant impact
Shota Dzemaili, Jitske Tiemensma, Richard Quinton, Nelly Pitteloud, Diane Morin and Andrew A Dwyer
Introduction Infertility affects ~10–15% of women globally and is a significant health concern ( 1 ). Sometimes referred to as the pilot light of reproduction, gonadotropin-releasing hormone (GnRH) secretion is essential for developing and
Shruti Khare, Anurag R Lila, Hiren Patt, Chaitanya Yerawar, Manjunath Goroshi, Tushar Bandgar and Nalini S Shah
hypogonadism (oligo-amenorrhoea/infertility) in 96.15% (50/52 females; excluding four postmenopausal females), while only 6.81% ( n =3) males presented with symptoms of hypogonadism (decreased libido, erectile dysfunction infertility) ( P <0.001). The
Catarina I Gonçalves, José M Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho and Manuel C Lemos
Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare disorder characterised by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH) and, unlike Kallmann syndrome, is associated with a normal sense of smell. Mutations in the GNRHR gene cause autosomal recessive nCHH. The aim of this study was to determine the prevalence of GNRHR mutations in a group of 40 patients with nCHH.
Cross-sectional study of 40 unrelated patients with nCHH.
Patients were screened for mutations in the GNRHR gene by DNA sequencing.
GNRHR mutations were identified in five of 40 patients studied. Four patients had biallelic mutations (including a novel frameshift deletion p.Phe313Metfs*3, in two families) in agreement with autosomal recessive inheritance. One patient had a heterozygous GNRHR mutation associated with a heterozygous PROKR2 mutation, thus suggesting a possible role of synergistic heterozygosity in the pathogenesis of the disorder.
This study further expands the spectrum of known genetic defects associated with nCHH. Although GNRHR mutations are usually biallelic and inherited in an autosomal recessive manner, the presence of a monoallelic mutation in a patient should raise the possibility of a digenic/oligogenic cause of nCHH.
Kusum Lata, Pinaki Dutta, Subbiah Sridhar, Minakshi Rohilla, Anand Srinivasan, G R V Prashad, Viral N Shah and Anil Bhansali
frequent cause of hypothyroidism in women of reproductive age. The prevalence of hypothyroidism in the general population of reproductive age is ∼2–3% (6, 7) . Overt hypothyroidism is commonly associated with infertility, as thyroid hormones have a direct
Lijin Ji, Na Yi, Qi Zhang, Shuo Zhang, Xiaoxia Liu, Hongli Shi and Bin Lu
diameter of ≥1 cm ( 2 ). Clinical manifestations include hyperprolactinemia and local tumor mass effects. The former can cause amenorrhea, lactation and infertility in females. In males, sexual dysfunction and infertility are the most common deleterious
Ladan Younesi, Zeinab Safarpour Lima, Azadeh Akbari Sene, Zahra Hosseini Jebelli and Ghazaleh Amjad
ovaries in ultrasound ( 2 ). The three main causes of these patients’ referral are infertility (74%), irregular menstrual cycles (66%) and an increase in the level of androgens (48%) ( 3 ). It has been defined that infertility was one of the main