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Galactosemia
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Ovarian failure has been recognized in female patients [9–11]. It may present as either primary or secondary amenorrhea with hypergonadotrophic hypogonadism. This is seen in 75–96 percent of female patients by the age of 30 years. The incidence of ovarian failure is unrelated to the age at diagnosis or the degree of dietary control. The mechanism remains enigmatic. Impaired oocyte maturation and accelerated atresia have both been reported. One patient had normal ovaries at laparoscopy at seven years of age and streak ovaries ten years later, suggesting a time-dependent effect. Pregnancies have occurred in female patients with classical galactosemia, although they are very rare. One patient, who successfully delivered, developed ovarian failure later. Many have low levels of estradiol and elevated levels of gonadotropins. Diminished or absent ovarian tissue may be revealed by ultrasonography. Evidence of hypergonadotropic hypogonadism has also been found in prepubertal girls [10]. The effect on the ovary is clearly a toxic one that takes a variable period of time to develop.
The endocrine system
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
Hypergonadotrophic hypogonadism is usually due to an impaired response of the gonads to gonadotrophins. A wide variety of conditions present this way including Klinefelter's syndrome, Turner's syndrome, Swyer syndrome and Sertoli cell-only syndrome, in which spermatogenesis does not occur and only Sertoli cells are seen in the tubules.
Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
With treatment, however, the immediate prognosis is generally good, although early feeding problems and speech delay due to an oral motor dyspraxia are common. Older children and adults might have problems with verbal planning and ‘concepts’ in mathematics and science. Motor function, co-ordination and balance may also be affected. The majority of women develop hypergonadotrophic hypogonadism and there is a high risk for ovarian failure. Individually, females need to be assessed to start hormone replacement therapy as indicated.
18-Year-old patient with Klinefelter syndrome (47, XXY) and complete androgen insensitivity syndrome (CAIS) – case report
Published in Gynecological Endocrinology, 2021
Karolina Skalska, Maciej Ziółkowski, Adrian Skoczylas, Marta Teleon, Monika Grymowicz, Agnieszka Pollak, Roman Smolarczyk, Rafał Płoski, Błażej Męczekalski
In our patient, the preoperative gonadotropin levels were typical for women with CAIS (Table 1), where the FSH concentration is within or slightly above the normal range, and the LH concentration is typically elevated despite high testosterone levels, as resistance to androgens prevents the re-inhibition of pituitary LH [22]. In Klinefelter syndrome (47, XXY), an extra X chromosome implies male hypogonadism, but since the pituitary gland function remains normal, it is called hypergonadotropic hypogonadism [3]. After gonadectomy, even higher serum concentrations of gonadotropins were to be expected [23] (Table 1). At the same time, therapy with exogenous estradiol was started, which only partially inhibited the pituitary gland, as evidenced by lower levels, but still above the normal range, of LH and FSH in an 18-year-old patient (Table 2).
A Novel Homozygous Mutation in CYP11A1 Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient
Published in Fetal and Pediatric Pathology, 2021
Ozlem Kara, Orhan Gorukmez, Arzu Ekici, Fatih Celik
P450scc enzyme is also required for steroidogenesis in gonads. Depending on the enzyme activity, 46, XY cases may show complete female features in external genitalia or cliteromegaly can be observed [6]. 46, XX individuals do not experience disorders of sex development. However, hypergonadotropic hypogonadism can be seen in later periods due to the affected steroidogenesis in the gonads. Signs of puberty (thelarche) are delayed [3]. Our patient is pre-pubertal and is being followed for her hormonal status, her latest elevated FSH levels were consistent with hypergonadotropic hypogonadism.
Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype
Published in Gynecological Endocrinology, 2021
Elisavet Kouvidi, Sophia Zachaki, Nikoletta Selenti, Danai Veltra, Theodora Evmorfopoulou, Eirini Tsoutsou, Garifallia Tzifa, Christalena Sofocleous, Sarantis Gagos, Ariadni Mavrou
Extensive endocrinological investigation revealed hypergonadotropic hypogonadism. FSH was 78.80 mIU/ml (normal reference range: 3–12 mIU/ml), LH was 35 mIU/ml (normal reference range: 1.3–12.6 mIU/ml), and estradiol E2 was 13 pg/ml (normal reference range: 30–150 pg/ml). Thyroid hormones, prolactin, testosterone, and androstenedione were within the normal range.