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. 2014 Mar 15;7(1):42-5.
Epub 2014 Mar 25.

Phenotypic spectrum and hormonal profile in hypogonadotropic hypogonadism

D Păun  1 , I Gherlan  1 , I Popescu  1 , C Procopiuc  1 , C Dumitrescu  1 , A Brehar  1 , D Dinu  1 , C Neamtu  1 , C Poiana  1 , C Dumitrache  1
Affiliations

Phenotypic spectrum and hormonal profile in hypogonadotropic hypogonadism

D Păun et al. J Med Life. .

Abstract

Background: Hypogonadotropic hypogonadism (HH) is characterized by inappropriately low serum concentration of LH (luteinizing hormone) and FSH (follicle-stimulated hormone) in the setting of hypogonadism. A number of pathologic processes cause Hypogonadotropic hypogonadism but it can also occur as a part of various congenital syndromes. Objectives. To characterize the morphotypes and the hormonal profile of the HH patients enrolled in the COST Action BM1105 within "C.I. Parhon" National Institute of Endocrinology from May 2012 onward. Methods. The eligible patients were selected by using a general protocol that included: a detailed familial and personal history; a clinical evaluation focusing on genital development; a hormonal evaluation that aimed to exclude the acquired causes of HH and to characterize the basal/stimulated (triptoreline) profile of gonadotropins; a DNA extraction for genetic studies.

Results: We examinated the medical records of patients admitted in our institute with the diagnosis of hypogonadotropic hypogonadism from May 2012 onward. There were 19 patients: 12 males and 7 females, age at diagnosis 28.03 ± 11.45 years (13.4-56 years). The phenotypic expressions were variable and the hormonal evaluation showed low values of basal and stimulated gonadotropins.

Conclusions: Although hypogonadotropic hypogonadism is a rare disease, the monospeciality profile of National Institute of Endocrinology enable the enrolment of a high number of patients in order to create clinical guidelines for evaluation/diagnosis and for treating GnRH deficient patients.

Keywords: Hypogonadotropic hypogonadism; hormonal profile; morphotypes.

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Figures

Table 1
Table 1
Triptorelinum test protocol
Fig. 1
Fig. 1
The distribution of the patients according to age
Fig. 2
Fig. 2
The distribution of the patients according to gender
Table 2
Table 2
Medical history in patients with hypogonadotropic hypogonadism
Table 3
Table 3
Clinical characteristics in patients with hypogonadotropic hypogonadism
Table 4
Table 4
The hormonal evaluation in adults with hypogonadotropic hypogonadism
Table 5
Table 5
The hormonal evaluation in pediatric patients
Fig. 3
Fig. 3
Correlation between testicular volume and LH values in the Triptorelinum test
See this image and copyright information in PMC

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