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André Marques-Pinto and Davide Carvalho

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

Open access

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

Open access

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

Open access

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

Open access

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

Open access

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

Open access

Catarina I Gonçalves, José M Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho and Manuel C Lemos

Objective

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.

Design

Cross-sectional study of 40 unrelated patients with nCHH.

Methods

Patients were screened for mutations in the GNRHR gene by DNA sequencing.

Results

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.

Conclusions

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.

Open access

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

Open access

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

Open access

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