Recent advances in understanding and managing Kallmann syndrome

Swee, Du Soon; Quinton, Richard; Maggi, Roberto

doi:10.12703/r/10-37

Cited by 9 publications

(5 citation statements)

References 72 publications

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“…Pulsatile secretion of GnRH is crucial for the development of secondary sexual characteristics and reproductive functioning in both sexes [ 10 ]. GnRH-producing neurons differ from other neuroendocrine cells in that they originate in the olfactory placode, migrate extensively during embryonic development, and finally settle in the hypothalamus region at birth [ 7 ]. As maternal hCG primarily drives the development of external genitalia, there are usually no abnormalities in the development of the internal and external genitalia in CHH females [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

“…AMH is produced by granulosa cells in the recruited primary, secondary, pre-antral, and early antral follicles. Therefore, the administration of FSH in CHH women may increase AMH levels by promoting follicle formation [ 7 ]. Successful ovulation induction can be achieved with carefully titrated doses of Gn, which prevent multiple pregnancies and ovarian hyperstimulation.…”

Section: Introductionmentioning

confidence: 99%

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Successful pregnancy and delivery after ovulation induction therapy in a woman with congenital hypogonadotropic hypogonadism: a case report

Liang

Yang

Liu

et al. 2023

BMC Pregnancy Childbirth

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Background Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder resulting from a deficient secretion of the episodic gonadotropin-releasing hormone, leading to delayed or absent puberty and infertility. In female patients with CHH, the most commonly used treatment is gonadotropin (Gn) therapy. Due to the rarity of the disease in females, there are limited case reports available. This article offers a management approach for this unusual disease that can be helpful for clinicians. Case presentation We report the case of a 29-year-old woman who successfully achieved pregnancy and delivered healthy twin girls after ovulation induction therapy. The patient was diagnosed with CHH at 18 years of age due to primary amenorrhea and the absence of secondary sexual characteristics. After experiencing infertility for three years, the patient sought medical assistance for conceiving. The patient was treated with gonadotropin therapy due to anovulation. In her first treatment cycle, the initial dose of HMG used for treatment was 75IU, which was increased to 150IU after six days. However, the cycle was canceled due to follicular dysplasia. In the second cycle, the treatment began with an initial dose of 150IU, and the follicles grew normally, but the estrogen level was low. Consequently, the treatment was interrupted. In a third ovulation stimulation cycle, HMG was adjusted to 150IU, and recombinant LH was added. After 12 days of ovulation, three mature follicles grew, the estrogen level was normal,and the treatment resulted in successful ovulation and subsequent pregnancy. At 35 weeks of gestation, the patient underwent a cesarean section and delivered two healthy female infants weighing 2,405 g and 2,755 g with an Apgar score of 10/10. Conclusions Early diagnosis and timely and appropriate hormone replacement therapy are important for future pregnancy. Ovulation induction therapy is necessary to stimulate fertility. Gn therapy is a feasible and effective treatment for reproduction in CHH females, but the selection of Gn type and dosage must be personalized to maximize fertility outcomes. Effective treatment is available not only for inducing estrogenization and promoting fertility, but also for addressing concerns about psychological and emotional well-being.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Successful pregnancy and delivery after ovulation induction therapy in a woman with congenital hypogonadotropic hypogonadism: a case report

Liang

Yang

Liu

et al. 2023

BMC Pregnancy Childbirth

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“…20 The patient did not experience a decrease in the sense of smell (hyposmia or anosmia) as the major manifestation in Kallmann syndrome, even though hormonal examination shows the result of hypogonadotropic hypogonadism. 21 In addition, the patient's posture appeared normal, the BMI was categorized as normal, and did not show gynecomastia. Based on the results of these examinations, the suspicion of Kallmann syndrome was also eliminated.…”

Section: Discussionmentioning

confidence: 99%

Testosterone undecanoate treatment for muscle weakness in a male with hypogonadotropic hypogonadism delayed puberty: A case report

Rizal

Septiyorini²

2022

JKKI

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Puberty is a series of physical development and sexual maturation that aims to achieved reproductive capacity. The hypothalamic-pituitary-gonadal (HPG) axis has an important role in the normal process of puberty. Disruption in the HPG axis causes hormonal disturbances, one of which is hypogonadotropic hypogonadism, which is associated with delayed puberty. Hormonal disorders can also cause various problems besides the reproductive system, such as muscle weakness, lack of energy, and an increased risk of bone fractures. We report the case of a male patient who complained of predominant muscle weakness, did not show signs and symptoms of puberty, and had an idiopathic hypogonadotropic hypogonadism who unresponsive to human chorionic gonadotropin (hCG) therapy. We decided to administered Testosterone Undecanoate (TU) therapy to overcome the problem of delayed puberty and complaints of muscle weakness experienced by the patient. TU therapy has shown beneficial effects in these patients by increasing testosterone levels, increasing penis length, and eliminating complaints of muscle weakness.

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“…It has an estimated incidence of 1 in 30,000 male individuals [3] . Given the clinical features of hypogonadism, it is usually diagnosed during puberty, when a lack of sexual maturation occurs [4] . In this case, however, the patient did not seek medical care during that period, delaying the diagnosis to adulthood during a hospital admission for an unrelated disease.…”

Section: Case Descriptionmentioning

confidence: 99%