...) are a rare cause of hyperphagia and severe early-onset obesity. To date, the phenotype has only been described in 25 obese children, some of whom also had altered immune function, hypogonadotropic hypogonadism, reduced growth hormone secretion, hypothalamic hypothyroidism or reduced adult height. We provide...

.... Hypoplasia of the male genitalia and lack or incomplete secondary sexual development in both sexes is a common feature, and is most often attributable to hypogonadotropic hypogonadism which is described in >80% of the CHARGE patients. Other genital anomalies in CHARGE patients are rare. Methods...

...Masaki Takagi; Satoshi Narumi; Yumi Asakura; Koji Muroya; Yukihiro Hasegawa; Masanori Adachi; Tomonobu Hasegawa Background: Heterozygous SOX2 mutations have been reported to cause isolated hypogonadotropic hypogonadism (HH) in addition to ocular and brain abnormalities. Objective: We report a novel...

... gonadotropin-releasing hormone expression. We investigated the contribution of TTF1 and EAP1 genes to central pubertal disorders. Patients and Methods: 133 patients with central pubertal disorders were studied: 86 with central precocious puberty and 47 with normosmic isolated hypogonadotropic hypogonadism...

...) a specific questionnaire (SQ) exploring concerns related to each endocrine condition. Three endocrinopathies (congenital adrenal hyperplasia, hypogonadotropic hypogonadism and growth hormone deficiency) were selected for assessment since they present specific challenges requiring characterization. Results...

... hormone secretion and IGF1 values also normalized. Conclusion: We describe here the first adolescent with hypogonadotropic hypogonadism due to connatal leptin deficiency. Leptin substitution led to a rapid induction of gonadotropin secretion and menarche. These data are further proof of the concept...

...Maki Fukami; Tetsuo Maruyama; Sumito Dateki; Naoko Sato; Yasunori Yoshimura; Tsutomu Ogata Background/Aims:TAC3 and TACR3 have recently been shown to be causative genes for an autosomal recessive form of isolated hypogonadotropic hypogonadism (IHH). Here, we report a Japanese female with IHH...

...Masahiro Goto; Noriyuki Katsumata Objective: X-linked adrenal hypoplasia congenita (AHC) associated with hypogonadotropic hypogonadism (HHG) is caused by mutations of the DAX-1 gene. A novel intronic mutation of the gene and the results of in vitro expression analysis are reported. Patient...

... Momoi; Tom Yorihuji; Tom Yorihuji Abnormality of the DAX- 1 gene accounts for many instances of congenital adrenal hypoplasia. In the present study, we performed molecular genetic analysis of DAX-1 in 4 unrelated Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism...

...C. Dacou-Voutetakis X-linked hypogonadotropic hypogonadism (HH) in humans may involve the genes responsible for the development and migration of GnRH neurons from the olfactory placode to the hypothalamus. The evidence for this includes the lack of hyperprolactinaemia in cases of X-linked HH...

... patients (8 females and 6 males, age 15-24 years) affected by β-thalassemia major with hypogonadotropic hypogonadism were studied. Luteinizing-hormone (LH), follicle-stimulating hormone (FSH) and free α-subunit (FAS) were measured during LH-releasing hormone (LH-RH) stimulation test, and thyroid...

... Hypogonadotropic hypogonadism Delayed puberty Hormone Res. 25: 88-96 (1987) © 1987 S. Karger AC». Basel 0301-0163/87/0252-0088S2.75/0 Short-Term Pulsatile Administration of Luteinizing Hormone Releasing Hormone in Male Adolescents with Multiple Idiopathic Pituitary Hormone Deficiencies1 Carl-Joachim Partsch...

...R. D’Agata; J.J. Heindel; E. Vicari; A. Aliffi; S. Gulizia; P. Polosa The effect of long-term hCG administration on sperm output was evaluated in a study in 3 hypogonadal patients with a selective deficiency of gonadotrophins (LH and FSH). The diagnosis of complete hypogonadotropic hypogonadism...

... as being associated with delayed or absent puberty in humans. Several of these genes are involved in the development of the olfactory nervous system, with mutations typically resulting in anosmia/hyposmia and hypogonadotropic hypogonadism, otherwise known as Kallmann syndrome. The biological basis...

...Manuela Simoni; Eberhard Nieschlag Background: Idiopathic hypogonadotropic hypogonadism (HH) results from a defect in the normal pulsatile secretion pattern of gonadotropin-releasing hormone (GnRH) from the hypothalamus. Clinically it can be categorized as one of two types: HH associated...

...Nicolas de Roux Hypogonadotropic hypogonadism has been described in several human genetic diseases. Congenital isolated hypogonadotropic hypogonadism is classified into two categories: one that is associated with anosmia (Kallmann syndrome) and one that is apparently isolated. Mutations...

...Jin-Ho Choi; Young-Lim Shin; Gu-Hwan Kim; Youngho Kim; Sangwook Park; Jung-Young Park; Changkyu Oh; Han-Wook Yoo Objective: X-linked adrenal hypoplasia congenita (AHC) is a condition clinically featuring adrenal insufficiency and hypogonadotropic hypogonadism caused by mutations of DAX-1...

...), hypogonadotropic hypogonadism (HH, 5 prepubertal boys >12 years), central precocious puberty (CPP, 19 girls) or premature thelarche/variant (13 girls). Results: Peak LH response was higher in prepubertal boys >12 years compared with younger boys (p < 0.01) but showed no further change in early puberty...

...C. Jansen; B.I. Hendriks-Stegeman; M. Jansen Kallmann syndrome (KS), defined by the association of hypogonadotropic hypogonadism and anosmia or hyposmia, can be caused by mutations in the KAL gene on Xp 22.3. This gene encodes an extracellular matrix glycoprotein called anosmin-1, which belongs...

..., diabetes insipidus and hypogonadotropic hypogonadism at the age of 15 years. When last seen at the age of 19 years she was extremely obese (+5.9 BMI SDS). The endocrine picture suggests that arachnoid cysts might be involved in far more complex hypothalamic-pituitary disturbances than previously thought...